ReDisulphID

a tool for identifying redox-active disulphides from structures

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Meckelin

Intramolecular
Cysteine 49 and cysteine 62
Cysteine 65 and cysteine 78
Cysteine 153 and cysteine 170
Cysteine 173 and cysteine 184
Cysteine 100 and cysteine 114
Cysteine 80 and cysteine 97
Cysteine 129 and cysteine 150
Cysteine 186 and cysteine 197
Cysteine 117 and cysteine 127
Cysteine 357 and cysteine 378
More...
Cysteine 237 and cysteine 246
Cysteine 253 and cysteine 268
Cysteine 127 and cysteine 129
Cysteine 127 and cysteine 150
Cysteine 117 and cysteine 129
Cysteine 49 and cysteine 65
Cysteine 117 and cysteine 150
Cysteine 49 and cysteine 78
Cysteine 65 and cysteine 80
Cysteine 184 and cysteine 186
Cysteine 78 and cysteine 80
Cysteine 153 and cysteine 184
Cysteine 184 and cysteine 197
A redox-regulated disulphide may form within Meckelin at these cysteines.

Relevent regions

In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.8313024
seq distance
0
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.8313024
seq distance
0
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.8313024
seq distance
0
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.8313024
seq distance
0
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
4.8182974
seq distance
5
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
4.8182974
seq distance
5
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
12.736279
seq distance
False
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
12.736279
seq distance
False
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
12.736279
seq distance
False
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
12.736279
seq distance
False
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
16.000914
seq distance
False
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
16.000914
seq distance
False
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
18.280764
seq distance
False
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
18.280764
seq distance
False
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
19.081198
seq distance
False
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
19.081198
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
19.12842
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
19.12842
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
20.542347
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
20.542347
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
20.697681
seq distance
28
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
20.697681
seq distance
28
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
21.329096
seq distance
20
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
21.329096
seq distance
20
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
21.329096
seq distance
20
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
21.329096
seq distance
20
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
21.770618
seq distance
False
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
21.770618
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
22.66048
seq distance
False
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
22.66048
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
22.66048
seq distance
False
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
22.66048
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
22.663488
seq distance
62
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
22.663488
seq distance
62
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
22.990746
seq distance
False
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
22.990746
seq distance
False
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
25.868565
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
25.868565
seq distance
False
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
25.868565
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
25.868565
seq distance
False
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
25.925068
seq distance
146
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
25.925068
seq distance
146
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
25.999798
seq distance
37
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
25.999798
seq distance
37
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
26.863922
seq distance
False
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
26.863922
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
26.938213
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
26.938213
seq distance
False
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
27.05461
seq distance
389
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
27.05461
seq distance
389
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
30.150797
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
30.150797
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
30.983082
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
30.983082
seq distance
False
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
31.93288
seq distance
False
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
31.93288
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
32.01424
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
32.01424
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
32.66676
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
32.66676
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
34.835957
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
34.835957
seq distance
False
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
35.43962
seq distance
False
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
35.43962
seq distance
False
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
35.55582
seq distance
False
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
35.55582
seq distance
False
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
35.668293
seq distance
False
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
35.668293
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
35.815845
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
35.815845
seq distance
False
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
36.99269
seq distance
68
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
36.99269
seq distance
68
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
37.011993
seq distance
296
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
37.011993
seq distance
296
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
37.395027
seq distance
False
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
37.395027
seq distance
False
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
37.395027
seq distance
False
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
37.395027
seq distance
False
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
37.505417
seq distance
False
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
37.505417
seq distance
False
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
39.25159
seq distance
70
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
39.25159
seq distance
70
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
39.29755
seq distance
108
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
39.29755
seq distance
108
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
39.43777
seq distance
297
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
39.43777
seq distance
297
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
39.65271
seq distance
False
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
39.65271
seq distance
False
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
41.44236
seq distance
False
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
41.44236
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
42.385
seq distance
110
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
42.385
seq distance
110
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
42.91033
seq distance
False
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
42.91033
seq distance
False
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
42.916008
seq distance
False
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
42.916008
seq distance
False
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
44.26473
seq distance
190
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
44.26473
seq distance
190
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
45.553772
seq distance
183
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
45.553772
seq distance
183
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
45.81839
seq distance
False
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
45.81839
seq distance
False
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
45.938187
seq distance
287
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
45.938187
seq distance
287
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
45.96262
seq distance
314
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
45.96262
seq distance
314
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
45.96262
seq distance
314
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
45.96262
seq distance
314
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
46.821
seq distance
False
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
46.821
seq distance
False
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
46.858276
seq distance
False
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
46.858276
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
47.57265
seq distance
195
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
47.57265
seq distance
195
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
47.91642
seq distance
114
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
47.91642
seq distance
114
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
47.951363
seq distance
False
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
47.951363
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
48.2215
seq distance
379
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
48.2215
seq distance
379
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
48.2215
seq distance
379
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
48.2215
seq distance
379
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
48.975212
seq distance
180
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
48.975212
seq distance
180
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
48.97995
seq distance
156
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
48.97995
seq distance
156
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
49.067753
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
49.067753
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
51.212677
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
51.212677
seq distance
False
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
52.0353
seq distance
378
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
52.0353
seq distance
378
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
52.86828
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
52.86828
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
53.888783
seq distance
234
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
53.888783
seq distance
234
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
54.628746
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
54.628746
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
54.628746
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
54.628746
seq distance
False
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
55.754467
seq distance
310
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
55.754467
seq distance
310
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
56.29899
seq distance
199
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
56.29899
seq distance
199
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
58.450546
seq distance
228
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
58.450546
seq distance
228
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
58.58686
seq distance
649
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
58.58686
seq distance
649
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
58.60445
seq distance
375
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
58.60445
seq distance
375
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
59.67742
seq distance
451
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
59.67742
seq distance
451
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
59.770348
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
59.770348
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
60.57011
seq distance
423
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
60.57011
seq distance
423
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
60.641743
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
60.641743
seq distance
False
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
60.83289
seq distance
368
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
60.83289
seq distance
368
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
61.072594
seq distance
239
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
61.072594
seq distance
239
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
61.477547
seq distance
666
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
61.477547
seq distance
666
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
63.640923
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
63.640923
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
64.33432
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
64.33432
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
64.670334
seq distance
258
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
64.670334
seq distance
258
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
65.150955
seq distance
542
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
65.150955
seq distance
542
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
67.72531
seq distance
528
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
67.72531
seq distance
528
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
69.142815
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
69.142815
seq distance
False
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
72.25268
seq distance
904
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
72.25268
seq distance
904
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
72.35834
seq distance
False
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
72.35834
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
72.74775
seq distance
677
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
72.74775
seq distance
677
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
72.88082
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
72.88082
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
77.437126
seq distance
553
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
77.437126
seq distance
553
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
78.45753
seq distance
554
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
78.45753
seq distance
554
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
79.05482
seq distance
880
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
79.05482
seq distance
880
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
85.85113
seq distance
False
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
85.85113
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
87.35356
seq distance
507
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
87.35356
seq distance
507
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
89.22097
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
89.22097
seq distance
False
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
91.03964
seq distance
False
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
91.03964
seq distance
False
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
91.230896
seq distance
False
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
91.230896
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
91.50172
seq distance
917
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
91.50172
seq distance
917
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
94.16357
seq distance
False
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
94.16357
seq distance
False
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
94.16357
seq distance
False
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
94.16357
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
96.25097
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
96.25097
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
100.154724
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
100.154724
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
100.30027
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
100.30027
seq distance
False
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
101.58516
seq distance
720
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
101.58516
seq distance
720
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
102.65632
seq distance
483
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
102.65632
seq distance
483
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
104.90723
seq distance
False
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
104.90723
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
104.92085
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
104.92085
seq distance
False
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
105.07476
seq distance
724
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
105.07476
seq distance
724
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
105.07476
seq distance
724
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
105.07476
seq distance
724
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
105.21369
seq distance
575
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
105.21369
seq distance
575
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
105.47866
seq distance
606
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
105.47866
seq distance
606
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
105.60512
seq distance
487
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
105.60512
seq distance
487
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
106.93451
seq distance
False
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
106.93451
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
108.926956
seq distance
771
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
108.926956
seq distance
771
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
109.515884
seq distance
728
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
109.515884
seq distance
728
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
112.66564
seq distance
781
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
112.66564
seq distance
781
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
114.596756
seq distance
779
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
114.596756
seq distance
779
chain
A

Details

Redox score
77.31
PDB code
7fh1
Structure name
structure of the human meckelin
Structure deposition date
2021-07-29
Thiol separation (Å)
2.03
Half-sphere exposure sum
55
Minimum pKa
nan
% buried
nan
Peptide accession
Q5HYA8
Residue number A
49
Residue number B
62
Peptide name
Meckelin
A redox-regulated disulphide may form within Meckelin at these cysteines.

Relevent regions

In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.824165
seq distance
0
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.824165
seq distance
0
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.824165
seq distance
0
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.824165
seq distance
0
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
4.6074076
seq distance
11
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
4.6074076
seq distance
11
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
13.141264
seq distance
4
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
13.141264
seq distance
4
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
13.141264
seq distance
4
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
13.141264
seq distance
4
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
13.744721
seq distance
12
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
13.744721
seq distance
12
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
13.825233
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
13.825233
seq distance
False
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
13.825233
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
13.825233
seq distance
False
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
13.825233
seq distance
False
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
13.825233
seq distance
False
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
14.09262
seq distance
False
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
14.09262
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
16.077473
seq distance
46
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
16.077473
seq distance
46
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
16.615187
seq distance
21
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
16.615187
seq distance
21
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
18.539536
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
18.539536
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
20.074444
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
20.074444
seq distance
False
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
22.220411
seq distance
False
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
22.220411
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
22.547537
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
22.547537
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
22.843407
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
22.843407
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
27.104244
seq distance
False
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
27.104244
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
27.104244
seq distance
False
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
27.104244
seq distance
False
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
27.610523
seq distance
False
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
27.610523
seq distance
False
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
27.81601
seq distance
False
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
27.81601
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
28.90658
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
28.90658
seq distance
False
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
29.296452
seq distance
False
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
29.296452
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
30.270079
seq distance
130
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
30.270079
seq distance
373
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
30.270079
seq distance
130
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
30.270079
seq distance
373
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
31.47702
seq distance
52
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
31.47702
seq distance
52
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
33.779636
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
33.779636
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
34.039173
seq distance
92
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
34.039173
seq distance
92
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
34.23182
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
34.23182
seq distance
False
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
34.23182
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
34.23182
seq distance
False
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
34.45231
seq distance
54
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
34.45231
seq distance
54
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
34.632164
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
34.632164
seq distance
False
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
36.30762
seq distance
False
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
36.30762
seq distance
False
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
36.42039
seq distance
False
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
36.42039
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
38.302742
seq distance
94
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
38.302742
seq distance
94
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
38.703995
seq distance
False
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
38.703995
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
40.958717
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
40.958717
seq distance
False
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
41.75425
seq distance
False
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
41.75425
seq distance
False
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
42.1183
seq distance
False
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
42.1183
seq distance
False
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
42.74833
seq distance
False
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
42.74833
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
43.017754
seq distance
280
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
43.017754
seq distance
280
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
43.978302
seq distance
False
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
43.978302
seq distance
False
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
44.289307
seq distance
False
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
44.289307
seq distance
False
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
44.289307
seq distance
False
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
44.289307
seq distance
False
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
44.370155
seq distance
False
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
44.370155
seq distance
False
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
45.34326
seq distance
281
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
45.34326
seq distance
281
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
45.675426
seq distance
98
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
45.675426
seq distance
98
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
45.861862
seq distance
167
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
45.861862
seq distance
167
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
46.55673
seq distance
174
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
46.55673
seq distance
174
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
46.606712
seq distance
False
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
46.606712
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
47.180122
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
47.180122
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
47.201916
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
47.201916
seq distance
False
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
47.775402
seq distance
False
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
47.775402
seq distance
False
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
48.337353
seq distance
164
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
48.337353
seq distance
164
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
48.584225
seq distance
False
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
48.584225
seq distance
False
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
49.603485
seq distance
271
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
49.603485
seq distance
271
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
50.851997
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
50.851997
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
50.851997
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
50.851997
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
51.350018
seq distance
179
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
51.350018
seq distance
179
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
51.364487
seq distance
363
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
51.364487
seq distance
363
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
51.364487
seq distance
363
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
51.364487
seq distance
363
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
52.10481
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
52.10481
seq distance
False
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
52.188446
seq distance
298
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
52.188446
seq distance
298
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
52.188446
seq distance
298
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
52.188446
seq distance
298
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
52.558956
seq distance
False
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
52.558956
seq distance
False
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
53.929344
seq distance
140
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
53.929344
seq distance
140
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
54.535477
seq distance
False
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
54.535477
seq distance
False
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
55.159943
seq distance
362
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
55.159943
seq distance
362
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
55.246647
seq distance
False
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
55.246647
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
55.899017
seq distance
218
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
55.899017
seq distance
218
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
56.60207
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
56.60207
seq distance
False
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
59.454643
seq distance
183
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
59.454643
seq distance
183
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
60.03652
seq distance
212
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
60.03652
seq distance
212
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
61.18856
seq distance
294
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
61.18856
seq distance
294
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
62.394646
seq distance
359
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
62.394646
seq distance
359
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
63.86619
seq distance
223
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
63.86619
seq distance
223
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
64.32862
seq distance
633
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
64.32862
seq distance
633
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
64.349915
seq distance
407
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
64.349915
seq distance
407
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
64.95261
seq distance
435
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
64.95261
seq distance
435
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
65.993324
seq distance
352
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
65.993324
seq distance
352
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
68.06656
seq distance
650
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
68.06656
seq distance
650
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
68.96754
seq distance
242
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
68.96754
seq distance
242
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
68.99453
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
68.99453
seq distance
False
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
71.423416
seq distance
526
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
71.423416
seq distance
526
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
71.84608
seq distance
False
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
71.84608
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
72.84542
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
72.84542
seq distance
False
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
73.26991
seq distance
512
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
73.26991
seq distance
512
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
77.81414
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
77.81414
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
79.73369
seq distance
661
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
79.73369
seq distance
661
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
80.20706
seq distance
False
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
80.20706
seq distance
False
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
80.66336
seq distance
888
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
80.66336
seq distance
888
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
81.62899
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
81.62899
seq distance
False
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
84.72065
seq distance
537
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
84.72065
seq distance
537
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
85.752266
seq distance
538
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
85.752266
seq distance
538
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
86.741875
seq distance
864
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
86.741875
seq distance
864
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
94.81829
seq distance
491
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
94.81829
seq distance
491
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
94.98098
seq distance
False
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
94.98098
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
97.549835
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
97.549835
seq distance
False
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
99.834915
seq distance
False
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
99.834915
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
100.14575
seq distance
901
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
100.14575
seq distance
901
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
100.27321
seq distance
False
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
100.27321
seq distance
False
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
103.30593
seq distance
False
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
103.30593
seq distance
False
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
103.30593
seq distance
False
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
103.30593
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
105.59878
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
105.59878
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
108.977104
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
108.977104
seq distance
False
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
109.62204
seq distance
704
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
109.62204
seq distance
704
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
109.73926
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
109.73926
seq distance
False
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
110.146965
seq distance
467
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
110.146965
seq distance
467
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
113.08174
seq distance
708
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
113.08174
seq distance
708
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
113.08174
seq distance
708
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
113.08174
seq distance
708
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
113.36093
seq distance
471
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
113.36093
seq distance
471
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
113.628044
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
113.628044
seq distance
False
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
113.65496
seq distance
False
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
113.65496
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
113.773445
seq distance
559
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
113.773445
seq distance
559
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
114.51833
seq distance
590
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
114.51833
seq distance
590
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
115.586395
seq distance
False
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
115.586395
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
116.81022
seq distance
755
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
116.81022
seq distance
755
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
117.56618
seq distance
712
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
117.56618
seq distance
712
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
121.08453
seq distance
765
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
121.08453
seq distance
765
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
122.840935
seq distance
763
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
122.840935
seq distance
763
chain
B

Details

Redox score
77.11
PDB code
7fh1
Structure name
structure of the human meckelin
Structure deposition date
2021-07-29
Thiol separation (Å)
2.03
Half-sphere exposure sum
65
Minimum pKa
nan
% buried
nan
Peptide accession
Q5HYA8
Residue number A
65
Residue number B
78
Peptide name
Meckelin
A redox-regulated disulphide may form within Meckelin at these cysteines.

Relevent regions

In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.8365715
seq distance
0
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.8365715
seq distance
0
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.8365715
seq distance
0
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.8365715
seq distance
0
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
2.8536496
seq distance
0
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
2.8536496
seq distance
0
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
4.3974786
seq distance
False
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
4.3974786
seq distance
False
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
4.3974786
seq distance
False
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
4.3974786
seq distance
False
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
7.6898727
seq distance
21
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
7.6898727
seq distance
21
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
8.573664
seq distance
2
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
8.573664
seq distance
2
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
12.216852
seq distance
23
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
12.216852
seq distance
23
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
16.147863
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
16.147863
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
18.367918
seq distance
6
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
18.367918
seq distance
6
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
20.895819
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
20.895819
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
21.994925
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
21.994925
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
22.441652
seq distance
29
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
22.441652
seq distance
29
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
24.354708
seq distance
False
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
24.354708
seq distance
False
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
25.643255
seq distance
False
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
25.643255
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
25.712984
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
25.712984
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
26.193506
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
26.193506
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
26.193506
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
26.193506
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
26.372353
seq distance
71
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
26.372353
seq distance
71
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
26.372353
seq distance
71
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
26.372353
seq distance
71
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
26.550074
seq distance
38
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
26.550074
seq distance
38
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
26.84625
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
26.84625
seq distance
False
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
27.0867
seq distance
72
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
27.0867
seq distance
72
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
28.509687
seq distance
75
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
28.509687
seq distance
75
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
29.085407
seq distance
281
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
29.085407
seq distance
281
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
31.476175
seq distance
54
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
31.476175
seq distance
54
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
32.266396
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
32.266396
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
32.748196
seq distance
63
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
32.748196
seq distance
63
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
34.062088
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
34.062088
seq distance
False
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
35.711445
seq distance
82
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
35.711445
seq distance
82
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
36.41733
seq distance
False
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
36.41733
seq distance
False
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
37.454605
seq distance
False
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
37.454605
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
37.46239
seq distance
99
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
37.46239
seq distance
99
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
38.24737
seq distance
False
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
38.24737
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
39.118065
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
39.118065
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
42.416824
seq distance
126
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
42.416824
seq distance
126
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
43.419334
seq distance
271
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
43.419334
seq distance
271
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
43.419334
seq distance
271
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
43.419334
seq distance
271
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
43.973637
seq distance
120
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
43.973637
seq distance
120
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
44.378437
seq distance
87
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
44.378437
seq distance
87
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
46.075096
seq distance
270
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
46.075096
seq distance
270
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
46.370094
seq distance
False
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
46.370094
seq distance
False
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
47.684444
seq distance
91
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
47.684444
seq distance
91
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
48.301304
seq distance
179
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
48.301304
seq distance
179
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
50.1056
seq distance
False
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
50.1056
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
50.13472
seq distance
131
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
50.13472
seq distance
131
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
50.990494
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
50.990494
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
51.019356
seq distance
False
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
51.019356
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
51.019356
seq distance
False
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
51.019356
seq distance
False
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
51.240345
seq distance
48
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
51.240345
seq distance
48
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
51.701393
seq distance
188
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
51.701393
seq distance
188
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
52.713745
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
52.713745
seq distance
False
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
52.98909
seq distance
False
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
52.98909
seq distance
False
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
53.1322
seq distance
267
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
53.1322
seq distance
267
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
53.87512
seq distance
False
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
53.87512
seq distance
False
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
54.399055
seq distance
189
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
54.399055
seq distance
189
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
54.49738
seq distance
False
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
54.49738
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
54.535114
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
54.535114
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
57.59336
seq distance
315
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
57.59336
seq distance
315
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
58.1947
seq distance
206
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
58.1947
seq distance
206
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
58.1947
seq distance
206
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
58.1947
seq distance
206
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
60.42335
seq distance
False
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
60.42335
seq distance
False
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
61.00046
seq distance
False
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
61.00046
seq distance
False
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
61.00046
seq distance
False
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
61.00046
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
61.262394
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
61.262394
seq distance
False
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
61.376305
seq distance
260
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
61.376305
seq distance
260
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
62.668068
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
62.668068
seq distance
False
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
62.73057
seq distance
False
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
62.73057
seq distance
False
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
62.776623
seq distance
False
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
62.776623
seq distance
False
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
64.182846
seq distance
202
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
64.182846
seq distance
202
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
64.57957
seq distance
343
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
64.57957
seq distance
343
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
65.57706
seq distance
False
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
65.57706
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
67.59138
seq distance
150
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
67.59138
seq distance
150
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
68.153946
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
68.153946
seq distance
False
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
68.29453
seq distance
False
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
68.29453
seq distance
False
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
68.52149
seq distance
541
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
68.52149
seq distance
541
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
69.46307
seq distance
False
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
69.46307
seq distance
False
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
70.699776
seq distance
False
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
70.699776
seq distance
False
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
72.48833
seq distance
434
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
72.48833
seq distance
434
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
73.29057
seq distance
558
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
73.29057
seq distance
558
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
75.1233
seq distance
420
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
75.1233
seq distance
420
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
75.98754
seq distance
False
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
75.98754
seq distance
False
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
76.54176
seq distance
False
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
76.54176
seq distance
False
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
78.16144
seq distance
False
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
78.16144
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
88.25525
seq distance
569
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
88.25525
seq distance
569
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
88.55945
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
88.55945
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
89.44058
seq distance
445
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
89.44058
seq distance
445
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
91.05347
seq distance
446
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
91.05347
seq distance
446
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
93.88315
seq distance
796
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
93.88315
seq distance
796
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
94.40537
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
94.40537
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
95.286964
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
95.286964
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
95.28836
seq distance
772
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
95.28836
seq distance
772
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
95.82344
seq distance
False
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
95.82344
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
98.004234
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
98.004234
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
100.415634
seq distance
399
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
100.415634
seq distance
399
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
104.579704
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
104.579704
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
112.57946
seq distance
809
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
112.57946
seq distance
809
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
115.23372
seq distance
375
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
115.23372
seq distance
375
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
115.26866
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
115.26866
seq distance
False
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
117.78401
seq distance
612
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
117.78401
seq distance
612
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
119.27954
seq distance
False
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
119.27954
seq distance
False
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
119.73128
seq distance
379
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
119.73128
seq distance
379
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
121.63072
seq distance
False
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
121.63072
seq distance
False
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
122.05662
seq distance
616
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
122.05662
seq distance
616
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
122.05662
seq distance
616
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
122.05662
seq distance
616
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
123.71556
seq distance
False
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
123.71556
seq distance
False
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
124.82118
seq distance
False
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
124.82118
seq distance
False
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
124.82118
seq distance
False
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
124.82118
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
125.24212
seq distance
663
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
125.24212
seq distance
663
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
125.663
seq distance
467
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
125.663
seq distance
467
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
127.76633
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
127.76633
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
128.03065
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
128.03065
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
128.74898
seq distance
620
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
128.74898
seq distance
620
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
129.69568
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
129.69568
seq distance
False
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
130.5013
seq distance
498
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
130.5013
seq distance
498
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
130.84435
seq distance
673
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
130.84435
seq distance
673
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
131.03247
seq distance
False
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
131.03247
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
131.22868
seq distance
671
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
131.22868
seq distance
671
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
134.61252
seq distance
False
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
134.61252
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
135.6516
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
135.6516
seq distance
False
chain
B

Details

Redox score
76.91
PDB code
7fh1
Structure name
structure of the human meckelin
Structure deposition date
2021-07-29
Thiol separation (Å)
2.03
Half-sphere exposure sum
65
Minimum pKa
nan
% buried
nan
Peptide accession
Q5HYA8
Residue number A
153
Residue number B
170
Peptide name
Meckelin
A redox-regulated disulphide may form within Meckelin at these cysteines.

Relevent regions

In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.8640108
seq distance
0
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.8640108
seq distance
0
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.8640108
seq distance
0
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.8640108
seq distance
0
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
5.3331714
seq distance
1
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
5.3331714
seq distance
1
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
8.524657
seq distance
3
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
8.524657
seq distance
3
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
10.175683
seq distance
3
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
10.175683
seq distance
3
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
11.129206
seq distance
False
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
11.129206
seq distance
False
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
11.129206
seq distance
False
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
11.129206
seq distance
False
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
11.848745
seq distance
41
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
11.848745
seq distance
41
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
12.904047
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
12.904047
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
17.638771
seq distance
24
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
17.638771
seq distance
24
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
17.856443
seq distance
43
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
17.856443
seq distance
43
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
18.269037
seq distance
58
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
18.269037
seq distance
58
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
20.582165
seq distance
61
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
20.582165
seq distance
61
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
22.745058
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
22.745058
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
23.84242
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
23.84242
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
23.84242
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
23.84242
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
24.509989
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
24.509989
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
25.285357
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
25.285357
seq distance
False
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
26.425768
seq distance
267
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
26.425768
seq distance
267
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
27.714571
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
27.714571
seq distance
False
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
28.926842
seq distance
68
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
28.926842
seq distance
68
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
29.199986
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
29.199986
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
29.6408
seq distance
49
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
29.6408
seq distance
49
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
31.178942
seq distance
False
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
31.178942
seq distance
False
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
31.265015
seq distance
False
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
31.265015
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
34.272724
seq distance
112
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
34.272724
seq distance
112
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
34.342587
seq distance
91
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
34.342587
seq distance
91
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
34.342587
seq distance
91
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
34.342587
seq distance
91
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
35.168488
seq distance
106
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
35.168488
seq distance
106
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
36.614574
seq distance
257
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
36.614574
seq distance
257
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
36.614574
seq distance
257
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
36.614574
seq distance
257
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
37.83409
seq distance
73
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
37.83409
seq distance
73
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
38.755856
seq distance
256
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
38.755856
seq distance
256
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
39.633232
seq distance
False
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
39.633232
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
39.633232
seq distance
False
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
39.633232
seq distance
False
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
39.942684
seq distance
77
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
39.942684
seq distance
77
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
39.971127
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
39.971127
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
40.049667
seq distance
83
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
40.049667
seq distance
83
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
40.593246
seq distance
74
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
40.593246
seq distance
74
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
41.474266
seq distance
117
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
41.474266
seq distance
117
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
43.075512
seq distance
119
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
43.075512
seq distance
119
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
43.406013
seq distance
165
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
43.406013
seq distance
165
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
43.67394
seq distance
False
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
43.67394
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
44.283257
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
44.283257
seq distance
False
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
45.312366
seq distance
253
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
45.312366
seq distance
253
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
45.91536
seq distance
34
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
45.91536
seq distance
34
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
48.98273
seq distance
174
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
48.98273
seq distance
174
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
49.9954
seq distance
False
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
49.9954
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
50.392494
seq distance
301
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
50.392494
seq distance
301
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
51.007313
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
51.007313
seq distance
False
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
51.021282
seq distance
False
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
51.021282
seq distance
False
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
51.729977
seq distance
175
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
51.729977
seq distance
175
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
52.60971
seq distance
False
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
52.60971
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
53.723427
seq distance
False
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
53.723427
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
53.723427
seq distance
False
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
53.723427
seq distance
False
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
54.118114
seq distance
192
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
54.118114
seq distance
192
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
54.118114
seq distance
192
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
54.118114
seq distance
192
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
54.32209
seq distance
246
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
54.32209
seq distance
246
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
55.174706
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
55.174706
seq distance
False
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
56.92337
seq distance
False
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
56.92337
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
57.274727
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
57.274727
seq distance
False
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
57.903442
seq distance
False
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
57.903442
seq distance
False
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
58.550224
seq distance
329
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
58.550224
seq distance
329
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
59.217068
seq distance
188
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
59.217068
seq distance
188
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
60.11933
seq distance
False
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
60.11933
seq distance
False
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
60.11933
seq distance
False
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
60.11933
seq distance
False
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
61.751472
seq distance
136
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
61.751472
seq distance
136
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
63.676098
seq distance
527
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
63.676098
seq distance
527
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
64.57395
seq distance
False
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
64.57395
seq distance
False
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
64.75812
seq distance
False
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
64.75812
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
65.22423
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
65.22423
seq distance
False
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
65.441284
seq distance
False
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
65.441284
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
65.7464
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
65.7464
seq distance
False
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
66.03137
seq distance
False
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
66.03137
seq distance
False
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
66.32418
seq distance
420
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
66.32418
seq distance
420
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
68.25944
seq distance
544
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
68.25944
seq distance
544
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
69.00796
seq distance
False
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
69.00796
seq distance
False
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
69.150734
seq distance
False
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
69.150734
seq distance
False
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
69.19331
seq distance
False
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
69.19331
seq distance
False
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
69.45658
seq distance
406
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
69.45658
seq distance
406
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
72.849014
seq distance
False
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
72.849014
seq distance
False
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
75.371864
seq distance
False
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
75.371864
seq distance
False
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
76.76798
seq distance
False
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
76.76798
seq distance
False
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
78.736885
seq distance
False
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
78.736885
seq distance
False
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
83.66787
seq distance
431
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
83.66787
seq distance
431
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
83.75795
seq distance
555
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
83.75795
seq distance
555
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
85.40084
seq distance
432
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
85.40084
seq distance
432
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
86.98691
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
86.98691
seq distance
False
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
90.25164
seq distance
782
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
90.25164
seq distance
782
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
90.38947
seq distance
758
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
90.38947
seq distance
758
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
93.14125
seq distance
False
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
93.14125
seq distance
False
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
94.06599
seq distance
False
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
94.06599
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
94.63811
seq distance
385
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
94.63811
seq distance
385
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
94.77216
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
94.77216
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
96.57928
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
96.57928
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
104.00192
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
104.00192
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
108.339096
seq distance
795
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
108.339096
seq distance
795
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
109.10455
seq distance
361
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
109.10455
seq distance
361
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
112.345505
seq distance
598
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
112.345505
seq distance
598
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
112.839645
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
112.839645
seq distance
False
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
113.8363
seq distance
365
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
113.8363
seq distance
365
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
116.7951
seq distance
602
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
116.7951
seq distance
602
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
116.7951
seq distance
602
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
116.7951
seq distance
602
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
118.85464
seq distance
False
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
118.85464
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
119.82571
seq distance
649
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
119.82571
seq distance
649
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
120.385895
seq distance
False
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
120.385895
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
121.09593
seq distance
453
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
121.09593
seq distance
453
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
122.95285
seq distance
False
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
122.95285
seq distance
False
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
123.31441
seq distance
False
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
123.31441
seq distance
False
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
123.31441
seq distance
False
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
123.31441
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
124.05449
seq distance
606
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
124.05449
seq distance
606
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
125.64006
seq distance
659
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
125.64006
seq distance
659
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
125.673035
seq distance
657
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
125.673035
seq distance
657
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
125.731255
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
125.731255
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
126.39486
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
126.39486
seq distance
False
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
127.044815
seq distance
484
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
127.044815
seq distance
484
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
127.50639
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
127.50639
seq distance
False
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
127.5348
seq distance
False
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
127.5348
seq distance
False
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
132.9493
seq distance
False
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
132.9493
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
134.38087
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
134.38087
seq distance
False
chain
A

Details

Redox score
76.9
PDB code
7fh1
Structure name
structure of the human meckelin
Structure deposition date
2021-07-29
Thiol separation (Å)
2.04
Half-sphere exposure sum
61
Minimum pKa
nan
% buried
nan
Peptide accession
Q5HYA8
Residue number A
173
Residue number B
184
Peptide name
Meckelin
A redox-regulated disulphide may form within Meckelin at these cysteines.

Relevent regions

In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.7982454
seq distance
0
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.7982454
seq distance
0
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.7982454
seq distance
0
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.7982454
seq distance
0
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
5.677528
seq distance
1
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
5.677528
seq distance
1
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
9.803908
seq distance
18
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
9.803908
seq distance
18
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
9.803908
seq distance
18
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
9.803908
seq distance
18
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
12.78085
seq distance
False
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
12.78085
seq distance
False
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
12.78085
seq distance
False
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
12.78085
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
13.348096
seq distance
10
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
13.348096
seq distance
10
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
17.09316
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
17.09316
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
19.938383
seq distance
10
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
19.938383
seq distance
10
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
20.416555
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
20.416555
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
21.541912
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
21.541912
seq distance
False
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
21.800316
seq distance
16
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
21.800316
seq distance
16
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
24.644547
seq distance
46
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
24.644547
seq distance
46
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
25.458946
seq distance
18
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
25.458946
seq distance
18
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
25.541855
seq distance
56
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
25.541855
seq distance
56
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
25.558859
seq distance
False
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
25.558859
seq distance
False
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
25.963663
seq distance
False
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
25.963663
seq distance
False
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
28.836742
seq distance
False
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
28.836742
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
30.980282
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
30.980282
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
32.192554
seq distance
58
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
32.192554
seq distance
58
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
34.095146
seq distance
False
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
34.095146
seq distance
False
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
38.39399
seq distance
94
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
38.39399
seq distance
337
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
38.39399
seq distance
94
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
38.39399
seq distance
337
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
39.883194
seq distance
False
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
39.883194
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
40.534504
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
40.534504
seq distance
False
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
41.229828
seq distance
False
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
41.229828
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
42.24483
seq distance
62
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
42.24483
seq distance
62
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
42.471706
seq distance
False
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
42.471706
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
43.024418
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
43.024418
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
44.93727
seq distance
False
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
44.93727
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
44.93727
seq distance
False
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
44.93727
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
45.059464
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
45.059464
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
46.13452
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
46.13452
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
46.13452
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
46.13452
seq distance
False
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
46.16758
seq distance
False
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
46.16758
seq distance
False
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
47.932938
seq distance
False
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
47.932938
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
48.433346
seq distance
131
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
48.433346
seq distance
131
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
48.817158
seq distance
128
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
48.817158
seq distance
128
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
49.67301
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
49.67301
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
49.878525
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
49.878525
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
50.042393
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
50.042393
seq distance
False
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
52.486744
seq distance
False
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
52.486744
seq distance
False
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
52.627815
seq distance
138
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
52.627815
seq distance
138
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
53.623573
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
53.623573
seq distance
False
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
54.053654
seq distance
False
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
54.053654
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
54.173763
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
54.173763
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
56.921646
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
56.921646
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
58.107174
seq distance
244
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
58.107174
seq distance
244
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
58.69355
seq distance
False
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
58.69355
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
59.468956
seq distance
327
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
59.468956
seq distance
327
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
59.468956
seq distance
327
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
59.468956
seq distance
327
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
59.747456
seq distance
143
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
59.747456
seq distance
143
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
60.363865
seq distance
235
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
60.363865
seq distance
235
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
60.630894
seq distance
245
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
60.630894
seq distance
245
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
60.778362
seq distance
False
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
60.778362
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
61.360817
seq distance
182
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
61.360817
seq distance
182
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
62.182076
seq distance
False
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
62.182076
seq distance
False
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
62.182076
seq distance
False
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
62.182076
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
62.55762
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
62.55762
seq distance
False
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
62.92748
seq distance
326
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
62.92748
seq distance
326
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
63.67496
seq distance
104
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
63.67496
seq distance
104
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
63.696285
seq distance
False
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
63.696285
seq distance
False
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
63.73794
seq distance
False
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
63.73794
seq distance
False
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
64.27891
seq distance
176
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
64.27891
seq distance
176
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
64.35766
seq distance
False
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
64.35766
seq distance
False
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
65.50761
seq distance
147
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
65.50761
seq distance
147
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
66.83712
seq distance
262
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
66.83712
seq distance
262
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
66.83712
seq distance
262
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
66.83712
seq distance
262
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
67.93036
seq distance
False
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
67.93036
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
69.55478
seq distance
187
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
69.55478
seq distance
187
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
70.42767
seq distance
323
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
70.42767
seq distance
323
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
72.46212
seq distance
False
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
72.46212
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
73.583
seq distance
371
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
73.583
seq distance
371
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
73.90046
seq distance
False
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
73.90046
seq distance
False
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
74.58783
seq distance
False
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
74.58783
seq distance
False
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
74.65255
seq distance
258
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
74.65255
seq distance
258
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
76.39699
seq distance
316
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
76.39699
seq distance
316
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
77.29012
seq distance
399
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
77.29012
seq distance
399
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
78.39423
seq distance
597
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
78.39423
seq distance
597
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
80.33999
seq distance
206
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
80.33999
seq distance
206
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
82.97729
seq distance
614
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
82.97729
seq distance
614
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
84.77276
seq distance
490
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
84.77276
seq distance
490
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
86.5945
seq distance
476
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
86.5945
seq distance
476
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
88.36551
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
88.36551
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
91.36035
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
91.36035
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
92.492744
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
92.492744
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
96.00646
seq distance
625
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
96.00646
seq distance
625
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
97.294014
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
97.294014
seq distance
False
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
98.67778
seq distance
852
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
98.67778
seq distance
852
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
98.69771
seq distance
False
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
98.69771
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
99.92616
seq distance
501
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
99.92616
seq distance
501
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
101.20711
seq distance
502
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
101.20711
seq distance
502
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
101.42194
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
101.42194
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
103.424866
seq distance
828
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
103.424866
seq distance
828
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
110.541374
seq distance
455
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
110.541374
seq distance
455
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
114.992355
seq distance
False
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
114.992355
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
116.64168
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
116.64168
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
118.128624
seq distance
865
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
118.128624
seq distance
865
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
119.57913
seq distance
False
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
119.57913
seq distance
False
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
120.219864
seq distance
False
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
120.219864
seq distance
False
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
123.14625
seq distance
False
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
123.14625
seq distance
False
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
123.14625
seq distance
False
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
123.14625
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
125.54705
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
125.54705
seq distance
False
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
125.86643
seq distance
431
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
125.86643
seq distance
431
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
126.44953
seq distance
668
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
126.44953
seq distance
668
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
128.45937
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
128.45937
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
129.44398
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
129.44398
seq distance
False
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
129.61073
seq distance
435
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
129.61073
seq distance
435
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
130.24367
seq distance
672
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
130.24367
seq distance
672
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
130.24367
seq distance
672
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
130.24367
seq distance
672
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
131.76077
seq distance
523
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
131.76077
seq distance
523
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
133.32388
seq distance
False
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
133.32388
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
133.35695
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
133.35695
seq distance
False
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
133.53487
seq distance
554
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
133.53487
seq distance
554
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
133.80647
seq distance
719
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
133.80647
seq distance
719
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
134.45917
seq distance
False
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
134.45917
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
135.40971
seq distance
676
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
135.40971
seq distance
676
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
138.45871
seq distance
729
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
138.45871
seq distance
729
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
139.78561
seq distance
727
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
139.78561
seq distance
727
chain
A

Details

Redox score
76.72
PDB code
7fh1
Structure name
structure of the human meckelin
Structure deposition date
2021-07-29
Thiol separation (Å)
2.03
Half-sphere exposure sum
59
Minimum pKa
nan
% buried
nan
Peptide accession
Q5HYA8
Residue number A
100
Residue number B
114
Peptide name
Meckelin
A redox-regulated disulphide may form within Meckelin at these cysteines.

Relevent regions

In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.8184865
seq distance
0
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.8184865
seq distance
0
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.8184865
seq distance
0
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.8184865
seq distance
0
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
7.2973356
seq distance
2
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
7.2973356
seq distance
2
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
7.2973356
seq distance
2
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
7.2973356
seq distance
2
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
7.440883
seq distance
2
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
7.440883
seq distance
2
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
11.8367195
seq distance
27
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
11.8367195
seq distance
27
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
13.214634
seq distance
7
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
13.214634
seq distance
7
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
14.154977
seq distance
26
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
14.154977
seq distance
26
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
15.297831
seq distance
False
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
15.297831
seq distance
False
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
15.297831
seq distance
False
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
15.297831
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
17.270336
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
17.270336
seq distance
False
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
17.54725
seq distance
False
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
17.54725
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
17.832682
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
17.832682
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
17.878828
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
17.878828
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
22.839983
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
22.839983
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
23.52599
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
23.52599
seq distance
False
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
26.103489
seq distance
33
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
26.103489
seq distance
33
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
29.168858
seq distance
73
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
29.168858
seq distance
73
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
29.3902
seq distance
35
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
29.3902
seq distance
35
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
29.712519
seq distance
False
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
29.712519
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
30.487854
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
30.487854
seq distance
False
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
31.698082
seq distance
False
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
31.698082
seq distance
False
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
33.0348
seq distance
False
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
33.0348
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
33.195366
seq distance
111
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
33.195366
seq distance
354
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
33.195366
seq distance
111
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
33.195366
seq distance
354
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
34.675877
seq distance
75
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
34.675877
seq distance
75
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
35.011555
seq distance
False
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
35.011555
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
35.011555
seq distance
False
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
35.011555
seq distance
False
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
36.05629
seq distance
False
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
36.05629
seq distance
False
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
37.318127
seq distance
False
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
37.318127
seq distance
False
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
37.342205
seq distance
False
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
37.342205
seq distance
False
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
37.950615
seq distance
False
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
37.950615
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
40.391945
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
40.391945
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
41.103886
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
41.103886
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
43.523727
seq distance
79
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
43.523727
seq distance
79
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
43.61754
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
43.61754
seq distance
False
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
44.098885
seq distance
False
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
44.098885
seq distance
False
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
44.228092
seq distance
False
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
44.228092
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
44.612984
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
44.612984
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
45.666786
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
45.666786
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
46.5296
seq distance
148
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
46.5296
seq distance
148
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
48.066456
seq distance
145
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
48.066456
seq distance
145
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
48.14366
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
48.14366
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
48.14366
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
48.14366
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
48.216164
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
48.216164
seq distance
False
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
48.939327
seq distance
155
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
48.939327
seq distance
155
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
49.659245
seq distance
False
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
49.659245
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
49.846962
seq distance
261
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
49.846962
seq distance
261
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
52.25894
seq distance
False
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
52.25894
seq distance
False
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
52.27869
seq distance
262
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
52.27869
seq distance
262
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
52.35957
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
52.35957
seq distance
False
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
52.4946
seq distance
False
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
52.4946
seq distance
False
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
52.4946
seq distance
False
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
52.4946
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
53.05751
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
53.05751
seq distance
False
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
53.231712
seq distance
False
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
53.231712
seq distance
False
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
53.28436
seq distance
False
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
53.28436
seq distance
False
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
53.500362
seq distance
False
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
53.500362
seq distance
False
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
54.31351
seq distance
252
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
54.31351
seq distance
252
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
54.537792
seq distance
False
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
54.537792
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
54.827206
seq distance
344
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
54.827206
seq distance
344
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
54.827206
seq distance
344
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
54.827206
seq distance
344
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
54.95719
seq distance
160
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
54.95719
seq distance
160
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
57.750126
seq distance
False
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
57.750126
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
58.148438
seq distance
199
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
58.148438
seq distance
199
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
58.23245
seq distance
121
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
58.23245
seq distance
121
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
58.513916
seq distance
343
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
58.513916
seq distance
343
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
58.880283
seq distance
279
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
58.880283
seq distance
279
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
58.880283
seq distance
279
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
58.880283
seq distance
279
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
61.762302
seq distance
193
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
61.762302
seq distance
193
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
62.0334
seq distance
164
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
62.0334
seq distance
164
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
62.0609
seq distance
False
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
62.0609
seq distance
False
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
63.539112
seq distance
False
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
63.539112
seq distance
False
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
64.33481
seq distance
False
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
64.33481
seq distance
False
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
65.96979
seq distance
340
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
65.96979
seq distance
340
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
66.336105
seq distance
204
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
66.336105
seq distance
204
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
67.34634
seq distance
275
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
67.34634
seq distance
275
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
68.504166
seq distance
388
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
68.504166
seq distance
388
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
70.609314
seq distance
416
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
70.609314
seq distance
416
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
70.740974
seq distance
333
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
70.740974
seq distance
333
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
70.79506
seq distance
614
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
70.79506
seq distance
614
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
74.14731
seq distance
223
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
74.14731
seq distance
223
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
74.98268
seq distance
631
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
74.98268
seq distance
631
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
77.621
seq distance
507
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
77.621
seq distance
507
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
78.20651
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
78.20651
seq distance
False
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
79.4305
seq distance
493
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
79.4305
seq distance
493
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
80.96913
seq distance
False
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
80.96913
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
82.0706
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
82.0706
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
86.99074
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
86.99074
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
87.318146
seq distance
642
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
87.318146
seq distance
642
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
88.84011
seq distance
False
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
88.84011
seq distance
False
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
89.1724
seq distance
869
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
89.1724
seq distance
869
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
90.946045
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
90.946045
seq distance
False
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
91.85224
seq distance
518
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
91.85224
seq distance
518
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
93.00151
seq distance
519
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
93.00151
seq distance
519
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
94.56125
seq distance
845
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
94.56125
seq distance
845
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
102.21579
seq distance
472
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
102.21579
seq distance
472
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
104.44099
seq distance
False
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
104.44099
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
106.50582
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
106.50582
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
108.682205
seq distance
882
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
108.682205
seq distance
882
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
109.1328
seq distance
False
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
109.1328
seq distance
False
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
109.69205
seq distance
False
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
109.69205
seq distance
False
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
112.69748
seq distance
False
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
112.69748
seq distance
False
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
112.69748
seq distance
False
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
112.69748
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
115.06607
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
115.06607
seq distance
False
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
117.57085
seq distance
685
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
117.57085
seq distance
685
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
117.57209
seq distance
448
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
117.57209
seq distance
448
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
118.1704
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
118.1704
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
119.120605
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
119.120605
seq distance
False
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
121.03412
seq distance
452
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
121.03412
seq distance
452
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
121.16871
seq distance
689
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
121.16871
seq distance
689
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
121.16871
seq distance
689
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
121.16871
seq distance
689
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
122.30186
seq distance
540
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
122.30186
seq distance
540
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
122.90137
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
122.90137
seq distance
False
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
122.91115
seq distance
False
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
122.91115
seq distance
False
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
123.54766
seq distance
571
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
123.54766
seq distance
571
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
124.50115
seq distance
False
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
124.50115
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
124.81997
seq distance
736
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
124.81997
seq distance
736
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
125.95508
seq distance
693
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
125.95508
seq distance
693
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
129.33934
seq distance
746
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
129.33934
seq distance
746
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
130.89024
seq distance
744
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
130.89024
seq distance
744
chain
B

Details

Redox score
76.71
PDB code
7fh1
Structure name
structure of the human meckelin
Structure deposition date
2021-07-29
Thiol separation (Å)
2.04
Half-sphere exposure sum
62
Minimum pKa
nan
% buried
nan
Peptide accession
Q5HYA8
Residue number A
80
Residue number B
97
Peptide name
Meckelin
A redox-regulated disulphide may form within Meckelin at these cysteines.

Relevent regions

In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.8585715
seq distance
0
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.8585715
seq distance
0
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.8585715
seq distance
0
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.8585715
seq distance
0
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
5.0984764
seq distance
1
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
5.0984764
seq distance
1
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
7.693997
seq distance
3
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
7.693997
seq distance
3
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
11.634993
seq distance
False
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
11.634993
seq distance
False
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
11.634993
seq distance
False
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
11.634993
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
12.648059
seq distance
20
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
12.648059
seq distance
20
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
15.170494
seq distance
5
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
15.170494
seq distance
5
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
18.583529
seq distance
22
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
18.583529
seq distance
22
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
18.897556
seq distance
47
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
18.897556
seq distance
47
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
18.897556
seq distance
47
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
18.897556
seq distance
47
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
20.343794
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
20.343794
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
22.19508
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
22.19508
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
23.840946
seq distance
30
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
23.840946
seq distance
30
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
26.846262
seq distance
26
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
26.846262
seq distance
26
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
30.059366
seq distance
58
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
30.059366
seq distance
301
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
30.059366
seq distance
58
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
30.059366
seq distance
301
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
30.10016
seq distance
False
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
30.10016
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
31.047564
seq distance
39
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
31.047564
seq distance
39
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
31.211409
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
31.211409
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
32.21645
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
32.21645
seq distance
False
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
32.94455
seq distance
False
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
32.94455
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
33.432137
seq distance
75
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
33.432137
seq distance
75
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
35.46663
seq distance
92
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
35.46663
seq distance
92
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
35.639004
seq distance
95
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
35.639004
seq distance
95
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
36.191647
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
36.191647
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
36.197487
seq distance
False
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
36.197487
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
36.197487
seq distance
False
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
36.197487
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
37.17552
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
37.17552
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
37.17552
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
37.17552
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
37.778725
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
37.778725
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
39.328182
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
39.328182
seq distance
False
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
40.87471
seq distance
102
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
40.87471
seq distance
102
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
43.763958
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
43.763958
seq distance
False
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
44.044903
seq distance
False
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
44.044903
seq distance
False
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
48.072357
seq distance
False
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
48.072357
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
48.852207
seq distance
107
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
48.852207
seq distance
107
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
49.447887
seq distance
291
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
49.447887
seq distance
291
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
49.447887
seq distance
291
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
49.447887
seq distance
291
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
49.67967
seq distance
146
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
49.67967
seq distance
146
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
49.7765
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
49.7765
seq distance
False
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
50.369316
seq distance
False
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
50.369316
seq distance
False
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
50.902225
seq distance
False
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
50.902225
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
51.28926
seq distance
False
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
51.28926
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
51.28926
seq distance
False
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
51.28926
seq distance
False
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
51.793903
seq distance
140
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
51.793903
seq distance
140
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
52.309746
seq distance
111
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
52.309746
seq distance
111
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
52.454437
seq distance
290
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
52.454437
seq distance
290
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
53.323917
seq distance
68
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
53.323917
seq distance
68
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
53.595142
seq distance
False
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
53.595142
seq distance
False
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
54.24
seq distance
199
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
54.24
seq distance
199
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
55.05594
seq distance
208
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
55.05594
seq distance
208
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
55.74132
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
55.74132
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
56.427574
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
56.427574
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
56.486923
seq distance
151
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
56.486923
seq distance
151
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
57.139442
seq distance
False
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
57.139442
seq distance
False
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
58.043278
seq distance
209
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
58.043278
seq distance
209
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
58.955982
seq distance
287
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
58.955982
seq distance
287
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
60.717537
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
60.717537
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
61.424187
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
61.424187
seq distance
False
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
61.826183
seq distance
False
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
61.826183
seq distance
False
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
62.08916
seq distance
226
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
62.08916
seq distance
226
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
62.08916
seq distance
226
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
62.08916
seq distance
226
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
62.77695
seq distance
False
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
62.77695
seq distance
False
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
63.19315
seq distance
False
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
63.19315
seq distance
False
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
63.19315
seq distance
False
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
63.19315
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
64.45602
seq distance
335
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
64.45602
seq distance
335
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
66.0488
seq distance
False
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
66.0488
seq distance
False
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
66.0683
seq distance
280
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
66.0683
seq distance
280
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
66.50273
seq distance
False
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
66.50273
seq distance
False
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
66.74719
seq distance
False
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
66.74719
seq distance
False
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
68.35513
seq distance
False
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
68.35513
seq distance
False
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
69.50861
seq distance
222
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
69.50861
seq distance
222
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
69.98071
seq distance
False
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
69.98071
seq distance
False
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
70.23835
seq distance
363
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
70.23835
seq distance
363
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
71.6961
seq distance
False
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
71.6961
seq distance
False
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
73.71596
seq distance
561
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
73.71596
seq distance
561
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
74.31955
seq distance
170
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
74.31955
seq distance
170
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
76.152664
seq distance
False
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
76.152664
seq distance
False
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
77.16574
seq distance
False
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
77.16574
seq distance
False
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
77.22812
seq distance
454
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
77.22812
seq distance
454
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
77.80454
seq distance
578
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
77.80454
seq distance
578
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
79.00576
seq distance
False
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
79.00576
seq distance
False
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
80.9627
seq distance
440
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
80.9627
seq distance
440
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
89.593376
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
89.593376
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
92.68686
seq distance
589
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
92.68686
seq distance
589
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
93.555534
seq distance
465
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
93.555534
seq distance
465
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
95.27638
seq distance
466
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
95.27638
seq distance
466
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
95.6675
seq distance
False
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
95.6675
seq distance
False
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
96.40054
seq distance
816
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
96.40054
seq distance
816
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
96.44598
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
96.44598
seq distance
False
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
98.75592
seq distance
False
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
98.75592
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
99.07589
seq distance
792
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
99.07589
seq distance
792
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
99.61973
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
99.61973
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
104.66296
seq distance
419
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
104.66296
seq distance
419
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
105.602455
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
105.602455
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
115.24601
seq distance
829
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
115.24601
seq distance
829
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
117.8492
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
117.8492
seq distance
False
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
119.78778
seq distance
395
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
119.78778
seq distance
395
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
119.828964
seq distance
False
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
119.828964
seq distance
False
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
121.46905
seq distance
632
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
121.46905
seq distance
632
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
123.0966
seq distance
False
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
123.0966
seq distance
False
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
123.942986
seq distance
399
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
123.942986
seq distance
399
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
124.60282
seq distance
False
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
124.60282
seq distance
False
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
125.89618
seq distance
636
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
125.89618
seq distance
636
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
125.89618
seq distance
636
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
125.89618
seq distance
636
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
126.12713
seq distance
False
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
126.12713
seq distance
False
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
126.12713
seq distance
False
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
126.12713
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
128.71216
seq distance
487
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
128.71216
seq distance
487
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
128.76686
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
128.76686
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
129.35083
seq distance
683
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
129.35083
seq distance
683
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
130.13954
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
130.13954
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
131.06079
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
131.06079
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
132.51567
seq distance
640
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
132.51567
seq distance
640
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
132.80731
seq distance
518
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
132.80731
seq distance
518
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
133.88414
seq distance
False
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
133.88414
seq distance
False
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
134.10878
seq distance
693
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
134.10878
seq distance
693
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
134.6921
seq distance
691
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
134.6921
seq distance
691
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
136.42142
seq distance
False
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
136.42142
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
137.22548
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
137.22548
seq distance
False
chain
A

Details

Redox score
76.71
PDB code
7fh1
Structure name
structure of the human meckelin
Structure deposition date
2021-07-29
Thiol separation (Å)
2.04
Half-sphere exposure sum
55
Minimum pKa
nan
% buried
nan
Peptide accession
Q5HYA8
Residue number A
129
Residue number B
150
Peptide name
Meckelin
A redox-regulated disulphide may form within Meckelin at these cysteines.

Relevent regions

In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.8008564
seq distance
0
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.8008564
seq distance
0
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.8008564
seq distance
0
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.8008564
seq distance
0
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
7.107765
seq distance
10
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
7.107765
seq distance
10
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
11.651597
seq distance
11
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
11.651597
seq distance
11
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
13.28857
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
13.28857
seq distance
False
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
13.28857
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
13.28857
seq distance
False
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
13.28857
seq distance
False
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
13.28857
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
15.081768
seq distance
14
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
15.081768
seq distance
14
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
15.951333
seq distance
45
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
15.951333
seq distance
45
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
16.752766
seq distance
54
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
16.752766
seq distance
54
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
17.08401
seq distance
48
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
17.08401
seq distance
48
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
19.504213
seq distance
16
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
19.504213
seq distance
16
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
21.8028
seq distance
56
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
21.8028
seq distance
56
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
22.458189
seq distance
254
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
22.458189
seq distance
254
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
23.757942
seq distance
55
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
23.757942
seq distance
55
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
28.296728
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
28.296728
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
29.518295
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
29.518295
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
30.060953
seq distance
99
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
30.060953
seq distance
99
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
30.596107
seq distance
93
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
30.596107
seq distance
93
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
30.67263
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
30.67263
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
30.67263
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
30.67263
seq distance
False
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
31.878801
seq distance
64
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
31.878801
seq distance
64
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
32.062363
seq distance
60
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
32.062363
seq distance
60
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
32.90232
seq distance
244
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
32.90232
seq distance
244
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
32.90232
seq distance
244
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
32.90232
seq distance
244
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
33.06854
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
33.06854
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
33.281693
seq distance
62
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
33.281693
seq distance
62
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
34.116302
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
34.116302
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
34.511078
seq distance
104
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
34.511078
seq distance
104
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
34.603886
seq distance
243
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
34.603886
seq distance
243
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
37.80609
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
37.80609
seq distance
False
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
38.436214
seq distance
21
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
38.436214
seq distance
21
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
38.59843
seq distance
104
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
38.59843
seq distance
104
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
38.59843
seq distance
104
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
38.59843
seq distance
104
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
39.24066
seq distance
240
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
39.24066
seq distance
240
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
41.101196
seq distance
False
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
41.101196
seq distance
False
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
41.272495
seq distance
False
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
41.272495
seq distance
False
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
42.851433
seq distance
152
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
42.851433
seq distance
152
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
43.218834
seq distance
False
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
43.218834
seq distance
False
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
45.7944
seq distance
False
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
45.7944
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
46.12167
seq distance
87
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
46.12167
seq distance
87
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
46.41664
seq distance
132
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
46.41664
seq distance
132
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
46.881275
seq distance
96
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
46.881275
seq distance
96
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
47.09187
seq distance
288
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
47.09187
seq distance
288
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
47.91411
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
47.91411
seq distance
False
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
48.068386
seq distance
233
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
48.068386
seq distance
233
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
48.54782
seq distance
161
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
48.54782
seq distance
161
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
49.85652
seq distance
False
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
49.85652
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
50.40044
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
50.40044
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
51.55319
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
51.55319
seq distance
False
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
51.56536
seq distance
162
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
51.56536
seq distance
162
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
52.09281
seq distance
False
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
52.09281
seq distance
False
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
52.177807
seq distance
179
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
52.177807
seq distance
179
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
52.177807
seq distance
179
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
52.177807
seq distance
179
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
52.462288
seq distance
False
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
52.462288
seq distance
False
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
55.57637
seq distance
316
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
55.57637
seq distance
316
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
55.688267
seq distance
False
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
55.688267
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
57.552147
seq distance
False
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
57.552147
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
57.552147
seq distance
False
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
57.552147
seq distance
False
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
57.61574
seq distance
175
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
57.61574
seq distance
175
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
59.484043
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
59.484043
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
60.5058
seq distance
123
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
60.5058
seq distance
123
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
60.66033
seq distance
False
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
60.66033
seq distance
False
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
60.976864
seq distance
False
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
60.976864
seq distance
False
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
60.976864
seq distance
False
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
60.976864
seq distance
False
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
61.85444
seq distance
407
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
61.85444
seq distance
407
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
62.092476
seq distance
514
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
62.092476
seq distance
514
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
62.26376
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
62.26376
seq distance
False
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
62.357006
seq distance
False
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
62.357006
seq distance
False
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
65.23371
seq distance
False
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
65.23371
seq distance
False
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
65.47909
seq distance
531
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
65.47909
seq distance
531
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
67.16018
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
67.16018
seq distance
False
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
67.30187
seq distance
393
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
67.30187
seq distance
393
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
68.358055
seq distance
False
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
68.358055
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
68.507454
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
68.507454
seq distance
False
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
70.04508
seq distance
False
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
70.04508
seq distance
False
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
70.17867
seq distance
False
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
70.17867
seq distance
False
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
70.22966
seq distance
False
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
70.22966
seq distance
False
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
70.5655
seq distance
False
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
70.5655
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
70.79606
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
70.79606
seq distance
False
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
75.391045
seq distance
False
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
75.391045
seq distance
False
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
76.09601
seq distance
False
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
76.09601
seq distance
False
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
76.593765
seq distance
False
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
76.593765
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
79.099335
seq distance
418
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
79.099335
seq distance
418
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
80.254974
seq distance
False
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
80.254974
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
81.18496
seq distance
419
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
81.18496
seq distance
419
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
81.76503
seq distance
542
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
81.76503
seq distance
542
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
85.26907
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
85.26907
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
86.93038
seq distance
745
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
86.93038
seq distance
745
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
87.22479
seq distance
769
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
87.22479
seq distance
769
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
90.243835
seq distance
372
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
90.243835
seq distance
372
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
92.23525
seq distance
False
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
92.23525
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
94.73099
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
94.73099
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
95.01512
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
95.01512
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
95.94642
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
95.94642
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
103.992714
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
103.992714
seq distance
False
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
104.4977
seq distance
348
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
104.4977
seq distance
348
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
104.541275
seq distance
782
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
104.541275
seq distance
782
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
107.859474
seq distance
585
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
107.859474
seq distance
585
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
109.21298
seq distance
352
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
109.21298
seq distance
352
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
111.911125
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
111.911125
seq distance
False
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
112.803345
seq distance
589
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
112.803345
seq distance
589
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
112.803345
seq distance
589
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
112.803345
seq distance
589
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
115.89842
seq distance
636
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
115.89842
seq distance
636
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
117.322296
seq distance
440
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
117.322296
seq distance
440
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
118.50681
seq distance
False
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
118.50681
seq distance
False
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
119.91356
seq distance
False
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
119.91356
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
120.732376
seq distance
644
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
120.732376
seq distance
644
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
120.9318
seq distance
593
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
120.9318
seq distance
593
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
121.06008
seq distance
646
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
121.06008
seq distance
646
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
122.196045
seq distance
False
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
122.196045
seq distance
False
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
122.196045
seq distance
False
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
122.196045
seq distance
False
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
122.506546
seq distance
False
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
122.506546
seq distance
False
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
124.12645
seq distance
471
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
124.12645
seq distance
471
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
124.392975
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
124.392975
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
125.09501
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
125.09501
seq distance
False
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
125.22133
seq distance
False
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
125.22133
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
125.33335
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
125.33335
seq distance
False
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
132.27211
seq distance
False
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
132.27211
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
134.03781
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
134.03781
seq distance
False
chain
B

Details

Redox score
76.22
PDB code
7fh1
Structure name
structure of the human meckelin
Structure deposition date
2021-07-29
Thiol separation (Å)
2.03
Half-sphere exposure sum
64
Minimum pKa
nan
% buried
nan
Peptide accession
Q5HYA8
Residue number A
186
Residue number B
197
Peptide name
Meckelin
A redox-regulated disulphide may form within Meckelin at these cysteines.

Relevent regions

In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.807642
seq distance
0
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.807642
seq distance
0
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.807642
seq distance
0
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.807642
seq distance
0
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
10.981454
seq distance
3
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
10.981454
seq distance
3
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
11.163782
seq distance
3
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
11.163782
seq distance
3
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
13.020375
seq distance
35
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
13.020375
seq distance
35
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
13.020375
seq distance
35
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
13.020375
seq distance
35
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
15.057773
seq distance
5
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
15.057773
seq distance
5
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
16.412788
seq distance
18
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
16.412788
seq distance
18
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
16.844961
seq distance
False
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
16.844961
seq distance
False
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
16.844961
seq distance
False
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
16.844961
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
17.984325
seq distance
43
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
17.984325
seq distance
43
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
19.752684
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
19.752684
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
20.099289
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
20.099289
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
24.519123
seq distance
45
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
24.519123
seq distance
45
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
26.523197
seq distance
27
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
26.523197
seq distance
27
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
28.13528
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
28.13528
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
29.285353
seq distance
63
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
29.285353
seq distance
63
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
30.157623
seq distance
False
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
30.157623
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
32.0731
seq distance
False
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
32.0731
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
32.0731
seq distance
False
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
32.0731
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
32.732765
seq distance
81
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
32.732765
seq distance
324
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
32.732765
seq distance
81
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
32.732765
seq distance
324
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
33.57406
seq distance
49
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
33.57406
seq distance
49
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
34.232014
seq distance
False
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
34.232014
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
36.080833
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
36.080833
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
37.402344
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
37.402344
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
39.79361
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
39.79361
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
41.146435
seq distance
118
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
41.146435
seq distance
118
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
41.37653
seq distance
115
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
41.37653
seq distance
115
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
41.72855
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
41.72855
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
41.72855
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
41.72855
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
43.701805
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
43.701805
seq distance
False
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
44.21027
seq distance
False
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
44.21027
seq distance
False
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
45.63916
seq distance
False
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
45.63916
seq distance
False
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
45.692684
seq distance
125
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
45.692684
seq distance
125
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
46.167053
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
46.167053
seq distance
False
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
46.62256
seq distance
False
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
46.62256
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
48.49938
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
48.49938
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
48.82942
seq distance
False
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
48.82942
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
48.82942
seq distance
False
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
48.82942
seq distance
False
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
49.235157
seq distance
False
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
49.235157
seq distance
False
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
50.734207
seq distance
False
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
50.734207
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
53.250168
seq distance
130
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
53.250168
seq distance
130
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
53.767784
seq distance
314
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
53.767784
seq distance
314
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
53.767784
seq distance
314
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
53.767784
seq distance
314
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
54.177155
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
54.177155
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
54.842033
seq distance
169
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
54.842033
seq distance
169
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
56.352547
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
56.352547
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
56.37466
seq distance
231
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
56.37466
seq distance
231
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
56.780243
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
56.780243
seq distance
False
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
57.01977
seq distance
313
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
57.01977
seq distance
313
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
57.11343
seq distance
222
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
57.11343
seq distance
222
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
57.122715
seq distance
91
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
57.122715
seq distance
91
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
57.367535
seq distance
163
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
57.367535
seq distance
163
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
57.64841
seq distance
134
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
57.64841
seq distance
134
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
57.786243
seq distance
False
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
57.786243
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
58.5643
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
58.5643
seq distance
False
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
58.58484
seq distance
False
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
58.58484
seq distance
False
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
59.253845
seq distance
232
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
59.253845
seq distance
232
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
59.57725
seq distance
False
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
59.57725
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
62.066624
seq distance
174
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
62.066624
seq distance
174
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
62.912083
seq distance
False
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
62.912083
seq distance
False
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
62.912083
seq distance
False
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
62.912083
seq distance
False
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
63.835068
seq distance
310
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
63.835068
seq distance
310
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
64.13862
seq distance
249
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
64.13862
seq distance
249
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
64.13862
seq distance
249
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
64.13862
seq distance
249
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
64.874054
seq distance
False
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
64.874054
seq distance
False
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
64.93564
seq distance
False
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
64.93564
seq distance
False
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
65.11132
seq distance
False
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
65.11132
seq distance
False
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
66.59959
seq distance
False
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
66.59959
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
68.644745
seq distance
358
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
68.644745
seq distance
358
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
69.12723
seq distance
False
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
69.12723
seq distance
False
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
69.17959
seq distance
False
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
69.17959
seq distance
False
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
70.33519
seq distance
303
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
70.33519
seq distance
303
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
71.9917
seq distance
245
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
71.9917
seq distance
245
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
73.473114
seq distance
386
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
73.473114
seq distance
386
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
74.701126
seq distance
False
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
74.701126
seq distance
False
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
76.023865
seq distance
584
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
76.023865
seq distance
584
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
76.301414
seq distance
False
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
76.301414
seq distance
False
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
77.234886
seq distance
False
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
77.234886
seq distance
False
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
77.38825
seq distance
193
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
77.38825
seq distance
193
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
80.17634
seq distance
601
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
80.17634
seq distance
601
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
80.49709
seq distance
477
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
80.49709
seq distance
477
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
83.75171
seq distance
463
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
83.75171
seq distance
463
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
89.235985
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
89.235985
seq distance
False
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
94.28553
seq distance
False
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
94.28553
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
94.423805
seq distance
612
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
94.423805
seq distance
612
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
95.17706
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
95.17706
seq distance
False
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
96.31881
seq distance
488
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
96.31881
seq distance
488
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
97.47926
seq distance
839
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
97.47926
seq distance
839
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
97.90509
seq distance
489
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
97.90509
seq distance
489
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
98.982635
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
98.982635
seq distance
False
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
99.06822
seq distance
False
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
99.06822
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
101.06618
seq distance
815
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
101.06618
seq distance
815
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
104.26365
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
104.26365
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
107.29327
seq distance
442
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
107.29327
seq distance
442
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
116.606064
seq distance
852
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
116.606064
seq distance
852
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
117.76517
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
117.76517
seq distance
False
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
118.235466
seq distance
False
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
118.235466
seq distance
False
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
122.080986
seq distance
False
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
122.080986
seq distance
False
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
122.56775
seq distance
418
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
122.56775
seq distance
418
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
123.21767
seq distance
False
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
123.21767
seq distance
False
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
123.70973
seq distance
655
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
123.70973
seq distance
655
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
125.28507
seq distance
False
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
125.28507
seq distance
False
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
125.28507
seq distance
False
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
125.28507
seq distance
False
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
126.51659
seq distance
422
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
126.51659
seq distance
422
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
127.808395
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
127.808395
seq distance
False
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
127.93739
seq distance
659
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
127.93739
seq distance
659
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
127.93739
seq distance
659
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
127.93739
seq distance
659
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
129.85748
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
129.85748
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
130.20299
seq distance
510
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
130.20299
seq distance
510
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
130.71167
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
130.71167
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
131.48203
seq distance
706
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
131.48203
seq distance
706
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
133.39497
seq distance
541
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
133.39497
seq distance
541
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
134.043
seq distance
663
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
134.043
seq distance
663
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
134.49069
seq distance
False
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
134.49069
seq distance
False
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
135.61691
seq distance
False
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
135.61691
seq distance
False
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
136.09589
seq distance
716
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
136.09589
seq distance
716
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
136.12428
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
136.12428
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
136.96832
seq distance
714
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
136.96832
seq distance
714
chain
B

Details

Redox score
76.03
PDB code
7fh1
Structure name
structure of the human meckelin
Structure deposition date
2021-07-29
Thiol separation (Å)
2.03
Half-sphere exposure sum
64
Minimum pKa
nan
% buried
nan
Peptide accession
Q5HYA8
Residue number A
117
Residue number B
127
Peptide name
Meckelin
A redox-regulated disulphide may form within Meckelin at these cysteines.

Relevent regions

In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.7879567
seq distance
0
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
2.7879567
seq distance
0
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.7879567
seq distance
0
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
2.7879567
seq distance
0
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
5.1123857
seq distance
73
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
5.1123857
seq distance
73
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
6.167325
seq distance
2
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
6.167325
seq distance
2
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
6.167325
seq distance
2
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
6.167325
seq distance
2
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
6.2280517
seq distance
1
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
6.2280517
seq distance
1
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
6.761599
seq distance
False
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
6.761599
seq distance
False
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
6.761599
seq distance
False
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
6.761599
seq distance
False
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
8.488007
seq distance
2
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
8.488007
seq distance
2
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
9.097238
seq distance
False
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
9.097238
seq distance
False
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
10.438534
seq distance
False
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
10.438534
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
11.483582
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
11.483582
seq distance
False
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
15.530321
seq distance
8
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
15.530321
seq distance
8
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
17.609373
seq distance
6
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
17.609373
seq distance
6
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
18.506622
seq distance
False
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
18.506622
seq distance
False
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
18.506622
seq distance
False
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
18.506622
seq distance
False
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
20.147476
seq distance
135
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
20.147476
seq distance
135
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
20.51767
seq distance
63
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
20.51767
seq distance
63
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
20.51767
seq distance
63
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
20.51767
seq distance
63
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
20.634657
seq distance
333
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
20.634657
seq distance
333
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
20.928907
seq distance
False
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
20.928907
seq distance
False
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
21.605463
seq distance
77
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
21.605463
seq distance
77
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
22.292044
seq distance
350
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
22.292044
seq distance
350
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
22.534733
seq distance
100
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
22.534733
seq distance
100
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
22.692205
seq distance
False
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
22.692205
seq distance
False
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
22.694191
seq distance
62
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
22.694191
seq distance
62
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
24.234785
seq distance
False
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
24.234785
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
24.981207
seq distance
107
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
24.981207
seq distance
107
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
25.450884
seq distance
226
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
25.450884
seq distance
226
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
26.1735
seq distance
52
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
26.1735
seq distance
52
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
26.240505
seq distance
105
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
26.240505
seq distance
105
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
27.005249
seq distance
59
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
27.005249
seq distance
59
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
27.892845
seq distance
139
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
27.892845
seq distance
139
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
28.663698
seq distance
37
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
28.663698
seq distance
37
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
28.672981
seq distance
61
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
28.672981
seq distance
61
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
29.083965
seq distance
212
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
29.083965
seq distance
212
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
29.739254
seq distance
False
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
29.739254
seq distance
False
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
29.878447
seq distance
False
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
29.878447
seq distance
False
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
30.832985
seq distance
False
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
30.832985
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
31.191872
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
31.191872
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
32.910175
seq distance
112
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
32.910175
seq distance
112
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
32.970802
seq distance
False
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
32.970802
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
32.970802
seq distance
False
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
32.970802
seq distance
False
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
33.08925
seq distance
96
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
33.08925
seq distance
96
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
33.246758
seq distance
False
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
33.246758
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
33.429283
seq distance
56
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
33.429283
seq distance
56
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
33.510853
seq distance
67
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
33.510853
seq distance
67
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
35.090187
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
35.090187
seq distance
False
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
35.28549
seq distance
False
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
35.28549
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
36.865036
seq distance
361
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
36.865036
seq distance
361
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
37.71346
seq distance
115
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
37.71346
seq distance
115
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
37.878124
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
37.878124
seq distance
False
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
37.906948
seq distance
False
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
37.906948
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
38.078064
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
38.078064
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
38.44493
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
38.44493
seq distance
False
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
38.790688
seq distance
False
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
38.790688
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
39.272884
seq distance
237
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
39.272884
seq distance
237
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
39.760807
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
39.760807
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
40.27753
seq distance
238
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
40.27753
seq distance
238
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
40.86612
seq distance
588
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
40.86612
seq distance
588
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
41.67756
seq distance
303
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
41.67756
seq distance
303
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
42.035843
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
42.035843
seq distance
False
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
42.04539
seq distance
False
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
42.04539
seq distance
False
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
42.575253
seq distance
False
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
42.575253
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
42.794155
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
42.794155
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
42.868946
seq distance
564
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
42.868946
seq distance
564
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
44.26568
seq distance
False
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
44.26568
seq distance
False
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
44.530354
seq distance
False
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
44.530354
seq distance
False
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
44.619514
seq distance
False
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
44.619514
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
45.133224
seq distance
181
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
45.133224
seq distance
181
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
45.50772
seq distance
False
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
45.50772
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
47.78728
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
47.78728
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
48.129333
seq distance
185
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
48.129333
seq distance
185
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
48.226265
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
48.226265
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
48.506233
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
48.506233
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
48.75884
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
48.75884
seq distance
False
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
48.805363
seq distance
False
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
48.805363
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
49.08421
seq distance
267
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
49.08421
seq distance
267
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
49.60482
seq distance
191
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
49.60482
seq distance
191
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
49.911148
seq distance
233
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
49.911148
seq distance
233
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
51.08328
seq distance
187
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
51.08328
seq distance
187
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
51.358063
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
51.358063
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
51.78674
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
51.78674
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
52.207924
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
52.207924
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
52.391384
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
52.391384
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
52.391384
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
52.391384
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
52.526207
seq distance
275
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
52.526207
seq distance
275
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
52.526207
seq distance
275
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
52.526207
seq distance
275
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
52.995842
seq distance
225
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
52.995842
seq distance
225
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
53.541954
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
53.541954
seq distance
False
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
54.865055
seq distance
227
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
54.865055
seq distance
227
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
57.050903
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
57.050903
seq distance
False
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
57.782337
seq distance
False
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
57.782337
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
57.89038
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
57.89038
seq distance
False
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
59.252506
seq distance
False
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
59.252506
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
59.801098
seq distance
601
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
59.801098
seq distance
601
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
60.072914
seq distance
258
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
60.072914
seq distance
258
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
64.10413
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
64.10413
seq distance
False
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
64.87249
seq distance
167
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
64.87249
seq distance
167
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
66.027626
seq distance
404
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
66.027626
seq distance
404
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
68.72866
seq distance
171
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
68.72866
seq distance
171
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
69.83086
seq distance
408
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
69.83086
seq distance
408
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
69.83086
seq distance
408
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
69.83086
seq distance
408
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
71.467316
seq distance
False
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
71.467316
seq distance
False
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
72.127975
seq distance
False
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
72.127975
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
72.813446
seq distance
259
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
72.813446
seq distance
259
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
73.23835
seq distance
455
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
73.23835
seq distance
455
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
74.28389
seq distance
False
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
74.28389
seq distance
False
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
74.28389
seq distance
False
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
74.28389
seq distance
False
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
75.040245
seq distance
False
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
75.040245
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
76.06212
seq distance
412
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
76.06212
seq distance
412
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
76.4306
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
76.4306
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
77.32953
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
77.32953
seq distance
False
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
77.497154
seq distance
290
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
77.497154
seq distance
290
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
77.74323
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
77.74323
seq distance
False
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
78.24785
seq distance
False
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
78.24785
seq distance
False
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
78.786354
seq distance
465
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
78.786354
seq distance
465
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
79.7914
seq distance
463
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
79.7914
seq distance
463
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
84.30951
seq distance
False
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
84.30951
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
86.2216
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
86.2216
seq distance
False
chain
B

Details

Redox score
75.93
PDB code
7fh1
Structure name
structure of the human meckelin
Structure deposition date
2021-07-29
Thiol separation (Å)
2.03
Half-sphere exposure sum
63
Minimum pKa
nan
% buried
nan
Peptide accession
Q5HYA8
Residue number A
357
Residue number B
378
Peptide name
Meckelin
A redox-regulated disulphide may form within Meckelin at these cysteines.

Relevent regions

In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.752614
seq distance
0
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
2.752614
seq distance
0
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.752614
seq distance
0
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
2.752614
seq distance
0
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.752614
seq distance
0
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.752614
seq distance
0
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
5.2424555
seq distance
1
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
5.2424555
seq distance
1
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
5.6221924
seq distance
4
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
5.6221924
seq distance
4
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
8.640876
seq distance
False
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
8.640876
seq distance
False
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
8.640876
seq distance
False
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
8.640876
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
11.54176
seq distance
50
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
11.54176
seq distance
50
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
12.016693
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
12.016693
seq distance
False
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
12.171662
seq distance
6
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
12.171662
seq distance
6
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
12.24171
seq distance
44
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
12.24171
seq distance
44
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
15.107096
seq distance
61
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
15.107096
seq distance
61
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
16.365622
seq distance
195
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
16.365622
seq distance
195
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
16.365622
seq distance
195
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
16.365622
seq distance
195
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
17.00497
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
17.00497
seq distance
False
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
17.142063
seq distance
194
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
17.142063
seq distance
194
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
18.364933
seq distance
55
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
18.364933
seq distance
55
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
19.274384
seq distance
11
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
19.274384
seq distance
11
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
20.4206
seq distance
15
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
20.4206
seq distance
15
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
22.711994
seq distance
191
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
22.711994
seq distance
191
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
23.359344
seq distance
205
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
23.359344
seq distance
205
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
24.321438
seq distance
65
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
24.321438
seq distance
65
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
26.956278
seq distance
103
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
26.956278
seq distance
103
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
28.574932
seq distance
239
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
28.574932
seq distance
239
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
28.890982
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
28.890982
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
28.890982
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
28.890982
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
29.24717
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
29.24717
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
30.647823
seq distance
67
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
30.647823
seq distance
67
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
31.02536
seq distance
19
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
31.02536
seq distance
19
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
31.431955
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
31.431955
seq distance
False
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
32.88381
seq distance
184
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
32.88381
seq distance
184
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
33.182823
seq distance
105
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
33.182823
seq distance
105
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
33.74384
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
33.74384
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
36.40436
seq distance
112
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
36.40436
seq distance
112
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
37.85778
seq distance
130
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
37.85778
seq distance
130
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
37.85778
seq distance
130
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
37.85778
seq distance
130
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
38.13224
seq distance
267
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
38.13224
seq distance
267
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
38.23766
seq distance
107
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
38.23766
seq distance
107
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
38.77268
seq distance
113
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
38.77268
seq distance
113
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
39.108524
seq distance
False
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
39.108524
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
40.366264
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
40.366264
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
40.65155
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
40.65155
seq distance
False
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
40.84485
seq distance
126
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
40.84485
seq distance
126
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
41.40474
seq distance
False
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
41.40474
seq distance
False
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
42.349415
seq distance
74
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
42.349415
seq distance
74
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
43.800423
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
43.800423
seq distance
False
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
44.06851
seq distance
False
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
44.06851
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
44.523026
seq distance
113
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
44.523026
seq distance
113
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
45.062153
seq distance
False
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
45.062153
seq distance
False
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
45.292007
seq distance
465
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
45.292007
seq distance
465
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
45.55434
seq distance
358
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
45.55434
seq distance
358
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
46.455944
seq distance
False
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
46.455944
seq distance
False
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
49.18349
seq distance
482
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
49.18349
seq distance
482
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
49.275608
seq distance
155
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
49.275608
seq distance
155
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
49.275608
seq distance
155
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
49.275608
seq distance
155
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
49.468822
seq distance
344
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
49.468822
seq distance
344
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
50.01961
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
50.01961
seq distance
False
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
50.284637
seq distance
False
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
50.284637
seq distance
False
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
50.284637
seq distance
False
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
50.284637
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
50.501965
seq distance
183
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
50.501965
seq distance
183
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
50.96131
seq distance
147
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
50.96131
seq distance
147
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
51.5589
seq distance
False
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
51.5589
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
51.583565
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
51.583565
seq distance
False
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
51.797913
seq distance
False
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
51.797913
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
52.943188
seq distance
False
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
52.943188
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
52.943188
seq distance
False
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
52.943188
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
55.95546
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
55.95546
seq distance
False
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
56.480976
seq distance
False
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
56.480976
seq distance
False
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
56.827583
seq distance
False
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
56.827583
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
57.054447
seq distance
138
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
57.054447
seq distance
138
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
57.535606
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
57.535606
seq distance
False
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
59.41935
seq distance
False
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
59.41935
seq distance
False
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
61.33389
seq distance
False
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
61.33389
seq distance
False
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
61.630585
seq distance
False
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
61.630585
seq distance
False
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
62.384525
seq distance
False
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
62.384525
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
62.69775
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
62.69775
seq distance
False
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
63.125553
seq distance
369
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
63.125553
seq distance
369
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
63.24843
seq distance
False
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
63.24843
seq distance
False
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
64.870476
seq distance
False
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
64.870476
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
64.964554
seq distance
370
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
64.964554
seq distance
370
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
65.04713
seq distance
False
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
65.04713
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
65.16466
seq distance
493
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
65.16466
seq distance
493
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
65.595436
seq distance
False
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
65.595436
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
67.474976
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
67.474976
seq distance
False
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
68.2244
seq distance
False
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
68.2244
seq distance
False
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
68.80776
seq distance
False
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
68.80776
seq distance
False
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
70.692
seq distance
False
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
70.692
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
70.983315
seq distance
696
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
70.983315
seq distance
696
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
73.15119
seq distance
720
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
73.15119
seq distance
720
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
73.8832
seq distance
323
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
73.8832
seq distance
323
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
73.98529
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
73.98529
seq distance
False
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
77.564674
seq distance
False
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
77.564674
seq distance
False
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
83.25539
seq distance
False
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
83.25539
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
83.38076
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
83.38076
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
83.538086
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
83.538086
seq distance
False
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
87.672066
seq distance
299
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
87.672066
seq distance
299
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
89.86832
seq distance
733
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
89.86832
seq distance
733
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
91.90412
seq distance
536
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
91.90412
seq distance
536
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
92.31853
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
92.31853
seq distance
False
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
92.68913
seq distance
303
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
92.68913
seq distance
303
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
96.490944
seq distance
540
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
96.490944
seq distance
540
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
96.490944
seq distance
540
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
96.490944
seq distance
540
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
97.25336
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
97.25336
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
99.24222
seq distance
587
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
99.24222
seq distance
587
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
101.852356
seq distance
391
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
101.852356
seq distance
391
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
104.45041
seq distance
544
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
104.45041
seq distance
544
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
104.96344
seq distance
595
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
104.96344
seq distance
595
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
105.448265
seq distance
597
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
105.448265
seq distance
597
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
106.92827
seq distance
False
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
106.92827
seq distance
False
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
107.10061
seq distance
False
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
107.10061
seq distance
False
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
109.290054
seq distance
False
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
109.290054
seq distance
False
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
109.290054
seq distance
False
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
109.290054
seq distance
False
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
109.49457
seq distance
422
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
109.49457
seq distance
422
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
109.78592
seq distance
False
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
109.78592
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
110.13971
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
110.13971
seq distance
False
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
110.41132
seq distance
False
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
110.41132
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
112.178925
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
112.178925
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
112.600464
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
112.600464
seq distance
False
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
118.45219
seq distance
False
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
118.45219
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
120.62766
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
120.62766
seq distance
False
chain
A

Details

Redox score
74.85
PDB code
7fh1
Structure name
structure of the human meckelin
Structure deposition date
2021-07-29
Thiol separation (Å)
2.03
Half-sphere exposure sum
85
Minimum pKa
nan
% buried
nan
Peptide accession
Q5HYA8
Residue number A
237
Residue number B
246
Peptide name
Meckelin
A redox-regulated disulphide may form within Meckelin at these cysteines.

Relevent regions

In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.735335
seq distance
0
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
2.735335
seq distance
0
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.735335
seq distance
0
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
2.735335
seq distance
0
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.735335
seq distance
0
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.735335
seq distance
0
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
6.15364
seq distance
4
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
6.15364
seq distance
4
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
6.5399337
seq distance
1
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
6.5399337
seq distance
1
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
8.889672
seq distance
7
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
8.889672
seq distance
7
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
9.757678
seq distance
173
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
9.757678
seq distance
173
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
9.757678
seq distance
173
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
9.757678
seq distance
173
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
10.177154
seq distance
28
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
10.177154
seq distance
28
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
10.288791
seq distance
172
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
10.288791
seq distance
172
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
10.974043
seq distance
33
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
10.974043
seq distance
33
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
12.4230995
seq distance
169
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
12.4230995
seq distance
169
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
13.342974
seq distance
22
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
13.342974
seq distance
22
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
13.772371
seq distance
8
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
13.772371
seq distance
8
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
14.849589
seq distance
183
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
14.849589
seq distance
183
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
15.505722
seq distance
False
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
15.505722
seq distance
False
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
15.505722
seq distance
False
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
15.505722
seq distance
False
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
17.878887
seq distance
35
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
17.878887
seq distance
35
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
18.434399
seq distance
11
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
18.434399
seq distance
11
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
20.432264
seq distance
162
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
20.432264
seq distance
162
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
23.210922
seq distance
217
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
23.210922
seq distance
217
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
24.384933
seq distance
81
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
24.384933
seq distance
81
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
24.661285
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
24.661285
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
25.992725
seq distance
77
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
25.992725
seq distance
77
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
27.369701
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
27.369701
seq distance
False
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
29.936441
seq distance
108
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
29.936441
seq distance
108
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
29.936441
seq distance
108
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
29.936441
seq distance
108
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
30.457726
seq distance
245
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
30.457726
seq distance
245
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
31.045097
seq distance
90
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
31.045097
seq distance
90
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
33.591507
seq distance
91
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
33.591507
seq distance
91
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
34.229607
seq distance
False
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
34.229607
seq distance
False
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
34.59827
seq distance
104
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
34.59827
seq distance
104
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
34.74289
seq distance
81
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
34.74289
seq distance
81
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
34.83673
seq distance
336
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
34.83673
seq distance
336
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
35.969925
seq distance
False
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
35.969925
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
36.189037
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
36.189037
seq distance
False
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
37.544437
seq distance
False
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
37.544437
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
38.632652
seq distance
52
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
38.632652
seq distance
52
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
38.78295
seq distance
443
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
38.78295
seq distance
443
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
40.04899
seq distance
83
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
40.04899
seq distance
83
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
40.304657
seq distance
460
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
40.304657
seq distance
460
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
40.413
seq distance
121
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
40.413
seq distance
121
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
41.466133
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
41.466133
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
41.466133
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
41.466133
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
42.58298
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
42.58298
seq distance
False
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
42.930233
seq distance
False
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
42.930233
seq distance
False
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
42.937653
seq distance
322
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
42.937653
seq distance
322
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
43.282833
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
43.282833
seq distance
False
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
44.330673
seq distance
123
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
44.330673
seq distance
123
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
45.647976
seq distance
False
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
45.647976
seq distance
False
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
45.647976
seq distance
False
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
45.647976
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
48.139072
seq distance
129
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
48.139072
seq distance
129
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
49.661564
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
49.661564
seq distance
False
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
50.22422
seq distance
False
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
50.22422
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
51.3711
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
51.3711
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
51.37912
seq distance
199
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
51.37912
seq distance
199
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
51.834866
seq distance
347
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
51.834866
seq distance
347
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
51.981014
seq distance
False
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
51.981014
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
52.711224
seq distance
False
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
52.711224
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
52.711224
seq distance
False
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
52.711224
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
52.950394
seq distance
171
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
52.950394
seq distance
171
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
52.950394
seq distance
171
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
52.950394
seq distance
171
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
53.46701
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
53.46701
seq distance
False
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
54.08618
seq distance
False
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
54.08618
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
54.13765
seq distance
348
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
54.13765
seq distance
348
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
54.946934
seq distance
False
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
54.946934
seq distance
False
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
55.053684
seq distance
False
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
55.053684
seq distance
False
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
55.45004
seq distance
False
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
55.45004
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
55.742115
seq distance
163
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
55.742115
seq distance
163
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
55.898705
seq distance
False
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
55.898705
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
55.935764
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
55.935764
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
57.07362
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
57.07362
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
57.109455
seq distance
471
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
57.109455
seq distance
471
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
57.163033
seq distance
False
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
57.163033
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
57.65108
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
57.65108
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
57.899345
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
57.899345
seq distance
False
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
58.191143
seq distance
False
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
58.191143
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
59.239685
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
59.239685
seq distance
False
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
60.42306
seq distance
False
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
60.42306
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
60.578423
seq distance
674
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
60.578423
seq distance
674
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
61.66608
seq distance
154
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
61.66608
seq distance
154
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
62.09839
seq distance
False
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
62.09839
seq distance
False
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
62.40101
seq distance
698
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
62.40101
seq distance
698
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
63.002792
seq distance
301
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
63.002792
seq distance
301
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
63.23107
seq distance
False
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
63.23107
seq distance
False
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
64.479614
seq distance
False
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
64.479614
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
64.53361
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
64.53361
seq distance
False
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
65.935326
seq distance
False
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
65.935326
seq distance
False
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
67.30348
seq distance
False
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
67.30348
seq distance
False
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
67.6072
seq distance
False
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
67.6072
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
68.10037
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
68.10037
seq distance
False
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
69.69877
seq distance
False
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
69.69877
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
75.37026
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
75.37026
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
76.654564
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
76.654564
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
76.98797
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
76.98797
seq distance
False
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
77.12942
seq distance
277
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
77.12942
seq distance
277
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
78.3508
seq distance
711
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
78.3508
seq distance
711
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
80.54051
seq distance
514
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
80.54051
seq distance
514
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
81.782875
seq distance
281
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
81.782875
seq distance
281
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
84.8976
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
84.8976
seq distance
False
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
85.74057
seq distance
518
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
85.74057
seq distance
518
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
85.74057
seq distance
518
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
85.74057
seq distance
518
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
88.85215
seq distance
565
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
88.85215
seq distance
565
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
89.05931
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
89.05931
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
90.6268
seq distance
369
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
90.6268
seq distance
369
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
93.226654
seq distance
573
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
93.226654
seq distance
573
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
93.748314
seq distance
575
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
93.748314
seq distance
575
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
94.55495
seq distance
522
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
94.55495
seq distance
522
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
98.767715
seq distance
400
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
98.767715
seq distance
400
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
98.83539
seq distance
False
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
98.83539
seq distance
False
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
98.94507
seq distance
False
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
98.94507
seq distance
False
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
99.99837
seq distance
False
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
99.99837
seq distance
False
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
100.3014
seq distance
False
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
100.3014
seq distance
False
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
100.3014
seq distance
False
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
100.3014
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
101.154625
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
101.154625
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
101.91734
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
101.91734
seq distance
False
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
102.16699
seq distance
False
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
102.16699
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
103.282364
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
103.282364
seq distance
False
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
110.13943
seq distance
False
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
110.13943
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
112.64624
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
112.64624
seq distance
False
chain
B

Details

Redox score
74.54
PDB code
7fh1
Structure name
structure of the human meckelin
Structure deposition date
2021-07-29
Thiol separation (Å)
2.04
Half-sphere exposure sum
84
Minimum pKa
nan
% buried
nan
Peptide accession
Q5HYA8
Residue number A
253
Residue number B
268
Peptide name
Meckelin
A redox-regulated disulphide may form within Meckelin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.

Relevent regions

In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.8068225
seq distance
0
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.8068225
seq distance
0
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.8068225
seq distance
0
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.8068225
seq distance
0
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
5.0984716
seq distance
1
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
5.0984716
seq distance
1
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
7.693854
seq distance
3
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
7.693854
seq distance
3
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
11.16388
seq distance
3
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
11.16388
seq distance
3
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
12.647715
seq distance
41
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
12.647715
seq distance
41
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
12.664576
seq distance
False
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
12.664576
seq distance
False
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
12.664576
seq distance
False
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
12.664576
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
13.020423
seq distance
45
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
13.020423
seq distance
45
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
13.020423
seq distance
45
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
13.020423
seq distance
45
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
16.452564
seq distance
28
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
16.452564
seq distance
28
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
18.583416
seq distance
43
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
18.583416
seq distance
43
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
19.741892
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
19.741892
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
20.092653
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
20.092653
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
26.522795
seq distance
37
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
26.522795
seq distance
37
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
26.846313
seq distance
47
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
26.846313
seq distance
47
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
28.122574
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
28.122574
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
29.284527
seq distance
73
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
29.284527
seq distance
73
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
30.059523
seq distance
79
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
30.059523
seq distance
322
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
30.059523
seq distance
79
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
30.059523
seq distance
322
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
30.153254
seq distance
False
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
30.153254
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
31.199253
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
31.199253
seq distance
False
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
32.05438
seq distance
False
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
32.05438
seq distance
False
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
32.05438
seq distance
False
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
32.05438
seq distance
False
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
33.47449
seq distance
False
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
33.47449
seq distance
False
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
35.46618
seq distance
113
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
35.46618
seq distance
113
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
35.639004
seq distance
116
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
35.639004
seq distance
116
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
36.061314
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
36.061314
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
36.344875
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
36.344875
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
37.387486
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
37.387486
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
37.387486
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
37.387486
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
38.25929
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
38.25929
seq distance
False
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
40.87425
seq distance
123
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
40.87425
seq distance
123
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
43.75012
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
43.75012
seq distance
False
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
44.028847
seq distance
False
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
44.028847
seq distance
False
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
45.619343
seq distance
False
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
45.619343
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
46.145386
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
46.145386
seq distance
False
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
46.601707
seq distance
False
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
46.601707
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
48.806725
seq distance
False
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
48.806725
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
48.806725
seq distance
False
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
48.806725
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
48.851673
seq distance
128
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
48.851673
seq distance
128
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
49.210644
seq distance
False
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
49.210644
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
49.447643
seq distance
312
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
49.447643
seq distance
312
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
49.447643
seq distance
312
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
49.447643
seq distance
312
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
49.679592
seq distance
167
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
49.679592
seq distance
167
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
50.71143
seq distance
False
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
50.71143
seq distance
False
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
51.7946
seq distance
161
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
51.7946
seq distance
161
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
52.31008
seq distance
132
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
52.31008
seq distance
132
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
52.454525
seq distance
311
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
52.454525
seq distance
311
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
53.324497
seq distance
89
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
53.324497
seq distance
89
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
54.156345
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
54.156345
seq distance
False
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
54.239864
seq distance
220
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
54.239864
seq distance
220
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
55.04369
seq distance
229
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
55.04369
seq distance
229
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
55.676445
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
55.676445
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
56.48681
seq distance
172
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
56.48681
seq distance
172
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
56.760727
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
56.760727
seq distance
False
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
57.144424
seq distance
False
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
57.144424
seq distance
False
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
58.002518
seq distance
230
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
58.002518
seq distance
230
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
58.540367
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
58.540367
seq distance
False
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
58.566025
seq distance
False
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
58.566025
seq distance
False
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
58.956036
seq distance
308
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
58.956036
seq distance
308
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
59.555637
seq distance
False
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
59.555637
seq distance
False
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
62.088734
seq distance
247
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
62.088734
seq distance
247
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
62.088734
seq distance
247
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
62.088734
seq distance
247
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
62.887756
seq distance
False
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
62.887756
seq distance
False
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
62.887756
seq distance
False
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
62.887756
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
64.45595
seq distance
356
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
64.45595
seq distance
356
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
64.854294
seq distance
False
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
64.854294
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
64.91092
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
64.91092
seq distance
False
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
65.08654
seq distance
False
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
65.08654
seq distance
False
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
66.068535
seq distance
301
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
66.068535
seq distance
301
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
66.57469
seq distance
False
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
66.57469
seq distance
False
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
69.10445
seq distance
False
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
69.10445
seq distance
False
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
69.15395
seq distance
False
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
69.15395
seq distance
False
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
69.508415
seq distance
243
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
69.508415
seq distance
243
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
70.23825
seq distance
384
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
70.23825
seq distance
384
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
73.71619
seq distance
582
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
73.71619
seq distance
582
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
74.31971
seq distance
191
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
74.31971
seq distance
191
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
74.67582
seq distance
False
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
74.67582
seq distance
False
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
76.27698
seq distance
False
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
76.27698
seq distance
False
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
77.21085
seq distance
False
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
77.21085
seq distance
False
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
77.22791
seq distance
475
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
77.22791
seq distance
475
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
77.803635
seq distance
599
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
77.803635
seq distance
599
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
80.96281
seq distance
461
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
80.96281
seq distance
461
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
89.21061
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
89.21061
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
92.6868
seq distance
610
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
92.6868
seq distance
610
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
93.55532
seq distance
486
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
93.55532
seq distance
486
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
94.261116
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
94.261116
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
95.152054
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
95.152054
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
95.27656
seq distance
487
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
95.27656
seq distance
487
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
96.39986
seq distance
837
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
96.39986
seq distance
837
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
98.73269
seq distance
False
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
98.73269
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
98.95761
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
98.95761
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
99.07564
seq distance
813
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
99.07564
seq distance
813
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
104.23922
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
104.23922
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
104.66252
seq distance
440
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
104.66252
seq distance
440
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
115.24554
seq distance
850
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
115.24554
seq distance
850
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
117.740456
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
117.740456
seq distance
False
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
118.21118
seq distance
False
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
118.21118
seq distance
False
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
119.787224
seq distance
416
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
119.787224
seq distance
416
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
121.46886
seq distance
653
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
121.46886
seq distance
653
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
122.05629
seq distance
False
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
122.05629
seq distance
False
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
123.193245
seq distance
False
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
123.193245
seq distance
False
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
123.94241
seq distance
420
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
123.94241
seq distance
420
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
125.26
seq distance
False
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
125.26
seq distance
False
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
125.26
seq distance
False
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
125.26
seq distance
False
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
125.89607
seq distance
657
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
125.89607
seq distance
657
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
125.89607
seq distance
657
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
125.89607
seq distance
657
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
127.78323
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
127.78323
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
128.71199
seq distance
508
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
128.71199
seq distance
508
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
129.35062
seq distance
704
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
129.35062
seq distance
704
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
129.83246
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
129.83246
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
130.68643
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
130.68643
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
132.51544
seq distance
661
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
132.51544
seq distance
661
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
132.80643
seq distance
539
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
132.80643
seq distance
539
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
133.8606
seq distance
False
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
133.8606
seq distance
False
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
134.10876
seq distance
714
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
134.10876
seq distance
714
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
134.69193
seq distance
712
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
134.69193
seq distance
712
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
135.59193
seq distance
False
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
135.59193
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
136.09933
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
136.09933
seq distance
False
chain
B

Details

Redox score
67.13
PDB code
7fh1
Structure name
structure of the human meckelin
Structure deposition date
2021-07-29
Thiol separation (Å)
7.6
Half-sphere exposure sum
60
Minimum pKa
nan
% buried
nan
Peptide accession
Q5HYA8
Residue number A
127
Residue number B
129
Peptide name
Meckelin
A redox-regulated disulphide may form within Meckelin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.

Relevent regions

In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.8068225
seq distance
0
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.8068225
seq distance
0
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.8068225
seq distance
0
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.8068225
seq distance
0
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
6.4285736
seq distance
3
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
6.4285736
seq distance
3
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
8.427263
seq distance
5
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
8.427263
seq distance
5
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
11.16388
seq distance
3
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
11.16388
seq distance
3
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
11.637848
seq distance
False
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
11.637848
seq distance
False
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
11.637848
seq distance
False
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
11.637848
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
12.729289
seq distance
20
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
12.729289
seq distance
20
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
13.020423
seq distance
45
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
13.020423
seq distance
45
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
13.020423
seq distance
45
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
13.020423
seq distance
45
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
16.452564
seq distance
28
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
16.452564
seq distance
28
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
18.819487
seq distance
22
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
18.819487
seq distance
22
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
19.741892
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
19.741892
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
20.092653
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
20.092653
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
26.522795
seq distance
37
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
26.522795
seq distance
37
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
27.356483
seq distance
26
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
27.356483
seq distance
26
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
28.122574
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
28.122574
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
29.284527
seq distance
73
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
29.284527
seq distance
73
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
30.094854
seq distance
False
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
30.094854
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
31.693352
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
31.693352
seq distance
False
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
31.936314
seq distance
58
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
31.936314
seq distance
301
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
31.936314
seq distance
58
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
31.936314
seq distance
301
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
32.05438
seq distance
False
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
32.05438
seq distance
False
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
32.05438
seq distance
False
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
32.05438
seq distance
False
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
32.941254
seq distance
False
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
32.941254
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
36.061314
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
36.061314
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
36.18331
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
36.18331
seq distance
False
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
36.23872
seq distance
92
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
36.23872
seq distance
92
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
36.708855
seq distance
95
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
36.708855
seq distance
95
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
37.168777
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
37.168777
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
37.168777
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
37.168777
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
37.775986
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
37.775986
seq distance
False
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
42.29299
seq distance
102
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
42.29299
seq distance
102
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
44.192814
seq distance
False
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
44.192814
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
44.295128
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
44.295128
seq distance
False
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
45.619343
seq distance
False
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
45.619343
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
46.145386
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
46.145386
seq distance
False
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
46.601707
seq distance
False
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
46.601707
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
48.806725
seq distance
False
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
48.806725
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
48.806725
seq distance
False
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
48.806725
seq distance
False
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
49.210644
seq distance
False
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
49.210644
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
50.388405
seq distance
107
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
50.388405
seq distance
107
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
50.71143
seq distance
False
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
50.71143
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
50.786823
seq distance
146
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
50.786823
seq distance
146
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
50.8098
seq distance
291
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
50.8098
seq distance
291
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
50.8098
seq distance
291
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
50.8098
seq distance
291
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
52.75354
seq distance
140
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
52.75354
seq distance
140
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
53.680702
seq distance
111
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
53.680702
seq distance
111
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
53.755707
seq distance
290
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
53.755707
seq distance
290
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
54.156345
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
54.156345
seq distance
False
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
55.05676
seq distance
68
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
55.05676
seq distance
68
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
55.58583
seq distance
199
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
55.58583
seq distance
199
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
56.277237
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
56.277237
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
56.351974
seq distance
208
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
56.351974
seq distance
208
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
56.760727
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
56.760727
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
57.669277
seq distance
151
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
57.669277
seq distance
151
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
57.79947
seq distance
False
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
57.79947
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
58.540367
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
58.540367
seq distance
False
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
58.566025
seq distance
False
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
58.566025
seq distance
False
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
59.221684
seq distance
209
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
59.221684
seq distance
209
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
59.555637
seq distance
False
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
59.555637
seq distance
False
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
60.309074
seq distance
287
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
60.309074
seq distance
287
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
62.887756
seq distance
False
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
62.887756
seq distance
False
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
62.887756
seq distance
False
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
62.887756
seq distance
False
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
63.752712
seq distance
226
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
63.752712
seq distance
226
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
63.752712
seq distance
226
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
63.752712
seq distance
226
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
64.854294
seq distance
False
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
64.854294
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
64.91092
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
64.91092
seq distance
False
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
65.08654
seq distance
False
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
65.08654
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
65.70051
seq distance
335
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
65.70051
seq distance
335
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
66.57469
seq distance
False
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
66.57469
seq distance
False
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
67.60696
seq distance
280
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
67.60696
seq distance
280
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
69.10445
seq distance
False
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
69.10445
seq distance
False
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
69.15395
seq distance
False
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
69.15395
seq distance
False
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
70.98043
seq distance
222
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
70.98043
seq distance
222
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
71.69547
seq distance
363
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
71.69547
seq distance
363
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
74.67582
seq distance
False
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
74.67582
seq distance
False
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
75.2052
seq distance
561
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
75.2052
seq distance
561
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
75.55333
seq distance
170
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
75.55333
seq distance
170
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
76.27698
seq distance
False
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
76.27698
seq distance
False
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
77.21085
seq distance
False
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
77.21085
seq distance
False
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
78.82728
seq distance
454
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
78.82728
seq distance
454
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
79.41954
seq distance
578
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
79.41954
seq distance
578
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
82.37764
seq distance
440
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
82.37764
seq distance
440
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
89.21061
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
89.21061
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
94.261116
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
94.261116
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
94.28801
seq distance
589
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
94.28801
seq distance
589
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
95.152054
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
95.152054
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
95.24498
seq distance
465
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
95.24498
seq distance
465
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
96.95445
seq distance
466
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
96.95445
seq distance
466
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
97.47779
seq distance
816
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
97.47779
seq distance
816
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
98.95761
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
98.95761
seq distance
False
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
99.04403
seq distance
False
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
99.04403
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
100.79581
seq distance
792
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
100.79581
seq distance
792
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
104.23922
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
104.23922
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
106.34236
seq distance
419
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
106.34236
seq distance
419
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
116.60481
seq distance
829
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
116.60481
seq distance
829
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
117.740456
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
117.740456
seq distance
False
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
118.21118
seq distance
False
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
118.21118
seq distance
False
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
121.4355
seq distance
395
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
121.4355
seq distance
395
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
122.05629
seq distance
False
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
122.05629
seq distance
False
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
123.193245
seq distance
False
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
123.193245
seq distance
False
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
123.21794
seq distance
632
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
123.21794
seq distance
632
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
125.26
seq distance
False
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
125.26
seq distance
False
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
125.26
seq distance
False
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
125.26
seq distance
False
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
125.633766
seq distance
399
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
125.633766
seq distance
399
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
127.62506
seq distance
636
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
127.62506
seq distance
636
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
127.62506
seq distance
636
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
127.62506
seq distance
636
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
127.78323
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
127.78323
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
129.83246
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
129.83246
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
130.20201
seq distance
487
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
130.20201
seq distance
487
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
130.68643
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
130.68643
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
131.0493
seq distance
683
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
131.0493
seq distance
683
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
133.39326
seq distance
518
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
133.39326
seq distance
518
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
134.04193
seq distance
640
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
134.04193
seq distance
640
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
134.4663
seq distance
False
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
134.4663
seq distance
False
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
135.59193
seq distance
False
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
135.59193
seq distance
False
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
135.90387
seq distance
693
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
135.90387
seq distance
693
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
136.09933
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
136.09933
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
136.46764
seq distance
691
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
136.46764
seq distance
691
chain
A

Details

Redox score
66.37
PDB code
7fh1
Structure name
structure of the human meckelin
Structure deposition date
2021-07-29
Thiol separation (Å)
8.06
Half-sphere exposure sum
65
Minimum pKa
nan
% buried
nan
Peptide accession
Q5HYA8
Residue number A
127
Residue number B
150
Peptide name
Meckelin
A redox-regulated disulphide may form within Meckelin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.

Relevent regions

In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.807642
seq distance
0
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.807642
seq distance
0
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.807642
seq distance
0
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.807642
seq distance
0
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
5.0984764
seq distance
1
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
5.0984764
seq distance
1
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
7.693997
seq distance
3
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
7.693997
seq distance
3
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
11.243625
seq distance
5
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
11.243625
seq distance
5
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
12.648059
seq distance
41
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
12.648059
seq distance
41
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
12.6583605
seq distance
False
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
12.6583605
seq distance
False
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
12.6583605
seq distance
False
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
12.6583605
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
13.043533
seq distance
35
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
13.043533
seq distance
35
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
13.043533
seq distance
35
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
13.043533
seq distance
35
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
16.412788
seq distance
18
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
16.412788
seq distance
18
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
18.583529
seq distance
43
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
18.583529
seq distance
43
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
20.453777
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
20.453777
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
21.644558
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
21.644558
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
26.846262
seq distance
47
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
26.846262
seq distance
47
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
27.849302
seq distance
27
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
27.849302
seq distance
27
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
29.687683
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
29.687683
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
29.851328
seq distance
63
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
29.851328
seq distance
63
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
30.059366
seq distance
79
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
30.059366
seq distance
322
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
30.059366
seq distance
79
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
30.059366
seq distance
322
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
30.488531
seq distance
False
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
30.488531
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
31.211409
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
31.211409
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
33.342037
seq distance
False
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
33.342037
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
33.342037
seq distance
False
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
33.342037
seq distance
False
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
33.475662
seq distance
False
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
33.475662
seq distance
False
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
35.46663
seq distance
113
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
35.46663
seq distance
113
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
35.639004
seq distance
116
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
35.639004
seq distance
116
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
36.351616
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
36.351616
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
37.392807
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
37.392807
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
37.392807
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
37.392807
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
37.494614
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
37.494614
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
38.260868
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
38.260868
seq distance
False
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
40.87471
seq distance
123
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
40.87471
seq distance
123
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
43.763958
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
43.763958
seq distance
False
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
44.044903
seq distance
False
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
44.044903
seq distance
False
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
47.131443
seq distance
False
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
47.131443
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
47.207615
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
47.207615
seq distance
False
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
47.532505
seq distance
False
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
47.532505
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
48.852207
seq distance
128
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
48.852207
seq distance
128
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
49.447887
seq distance
312
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
49.447887
seq distance
312
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
49.447887
seq distance
312
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
49.447887
seq distance
312
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
49.67967
seq distance
167
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
49.67967
seq distance
167
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
50.027863
seq distance
False
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
50.027863
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
50.027863
seq distance
False
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
50.027863
seq distance
False
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
50.171066
seq distance
False
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
50.171066
seq distance
False
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
51.793903
seq distance
161
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
51.793903
seq distance
161
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
51.843678
seq distance
False
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
51.843678
seq distance
False
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
52.309746
seq distance
132
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
52.309746
seq distance
132
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
52.454437
seq distance
311
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
52.454437
seq distance
311
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
53.323917
seq distance
89
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
53.323917
seq distance
89
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
54.24
seq distance
220
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
54.24
seq distance
220
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
55.05594
seq distance
229
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
55.05594
seq distance
229
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
55.61712
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
55.61712
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
55.74132
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
55.74132
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
56.486923
seq distance
172
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
56.486923
seq distance
172
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
57.139442
seq distance
False
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
57.139442
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
57.90387
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
57.90387
seq distance
False
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
58.043278
seq distance
230
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
58.043278
seq distance
230
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
58.955982
seq distance
308
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
58.955982
seq distance
308
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
59.34524
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
59.34524
seq distance
False
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
59.998646
seq distance
False
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
59.998646
seq distance
False
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
60.724636
seq distance
False
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
60.724636
seq distance
False
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
62.08916
seq distance
247
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
62.08916
seq distance
247
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
62.08916
seq distance
247
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
62.08916
seq distance
247
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
63.19315
seq distance
False
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
63.19315
seq distance
False
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
63.19315
seq distance
False
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
63.19315
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
64.45602
seq distance
356
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
64.45602
seq distance
356
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
65.4283
seq distance
False
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
65.4283
seq distance
False
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
65.94065
seq distance
False
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
65.94065
seq distance
False
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
66.0683
seq distance
301
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
66.0683
seq distance
301
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
66.50273
seq distance
False
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
66.50273
seq distance
False
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
67.471855
seq distance
False
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
67.471855
seq distance
False
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
69.50861
seq distance
243
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
69.50861
seq distance
243
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
69.97136
seq distance
False
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
69.97136
seq distance
False
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
70.23835
seq distance
384
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
70.23835
seq distance
384
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
70.35359
seq distance
False
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
70.35359
seq distance
False
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
73.71596
seq distance
582
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
73.71596
seq distance
582
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
74.31955
seq distance
191
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
74.31955
seq distance
191
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
75.35232
seq distance
False
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
75.35232
seq distance
False
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
77.16574
seq distance
False
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
77.16574
seq distance
False
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
77.22812
seq distance
475
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
77.22812
seq distance
475
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
77.80454
seq distance
599
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
77.80454
seq distance
599
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
78.26523
seq distance
False
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
78.26523
seq distance
False
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
80.9627
seq distance
461
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
80.9627
seq distance
461
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
89.593376
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
89.593376
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
92.68686
seq distance
610
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
92.68686
seq distance
610
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
93.555534
seq distance
486
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
93.555534
seq distance
486
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
95.27638
seq distance
487
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
95.27638
seq distance
487
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
95.290504
seq distance
False
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
95.290504
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
96.130554
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
96.130554
seq distance
False
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
96.40054
seq distance
837
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
96.40054
seq distance
837
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
98.75592
seq distance
False
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
98.75592
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
99.07589
seq distance
813
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
99.07589
seq distance
813
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
99.61973
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
99.61973
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
104.66296
seq distance
440
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
104.66296
seq distance
440
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
105.17253
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
105.17253
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
115.24601
seq distance
850
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
115.24601
seq distance
850
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
117.8492
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
117.8492
seq distance
False
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
119.041
seq distance
False
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
119.041
seq distance
False
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
119.78778
seq distance
416
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
119.78778
seq distance
416
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
121.46905
seq distance
653
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
121.46905
seq distance
653
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
123.007065
seq distance
False
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
123.007065
seq distance
False
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
123.942986
seq distance
420
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
123.942986
seq distance
420
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
124.06295
seq distance
False
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
124.06295
seq distance
False
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
125.89618
seq distance
657
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
125.89618
seq distance
657
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
125.89618
seq distance
657
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
125.89618
seq distance
657
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
126.12713
seq distance
False
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
126.12713
seq distance
False
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
126.12713
seq distance
False
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
126.12713
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
128.5922
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
128.5922
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
128.71216
seq distance
508
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
128.71216
seq distance
508
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
129.35083
seq distance
704
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
129.35083
seq distance
704
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
130.13954
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
130.13954
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
131.06079
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
131.06079
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
132.51567
seq distance
661
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
132.51567
seq distance
661
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
132.80731
seq distance
539
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
132.80731
seq distance
539
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
133.88414
seq distance
False
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
133.88414
seq distance
False
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
134.10878
seq distance
714
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
134.10878
seq distance
714
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
134.6921
seq distance
712
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
134.6921
seq distance
712
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
136.42142
seq distance
False
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
136.42142
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
137.07414
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
137.07414
seq distance
False
chain
A

Details

Redox score
66.29
PDB code
7fh1
Structure name
structure of the human meckelin
Structure deposition date
2021-07-29
Thiol separation (Å)
8.29
Half-sphere exposure sum
54
Minimum pKa
nan
% buried
nan
Peptide accession
Q5HYA8
Residue number A
117
Residue number B
129
Peptide name
Meckelin
A redox-regulated disulphide may form within Meckelin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.

Relevent regions

In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.829945
seq distance
0
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.829945
seq distance
0
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.829945
seq distance
0
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.829945
seq distance
0
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
4.8182974
seq distance
5
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
4.8182974
seq distance
5
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
12.736279
seq distance
False
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
12.736279
seq distance
False
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
12.736279
seq distance
False
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
12.736279
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
13.140639
seq distance
17
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
13.140639
seq distance
17
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
13.140639
seq distance
17
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
13.140639
seq distance
17
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
15.487572
seq distance
25
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
15.487572
seq distance
25
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
15.756668
seq distance
False
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
15.756668
seq distance
False
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
16.042784
seq distance
False
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
16.042784
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
16.077055
seq distance
59
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
16.077055
seq distance
59
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
16.615286
seq distance
34
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
16.615286
seq distance
34
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
19.130384
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
19.130384
seq distance
False
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
19.460606
seq distance
False
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
19.460606
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
20.536837
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
20.536837
seq distance
False
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
21.770618
seq distance
False
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
21.770618
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
21.777605
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
21.777605
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
22.66048
seq distance
False
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
22.66048
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
22.66048
seq distance
False
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
22.66048
seq distance
False
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
22.990746
seq distance
False
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
22.990746
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
24.162916
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
24.162916
seq distance
False
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
25.925068
seq distance
143
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
25.925068
seq distance
143
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
26.648302
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
26.648302
seq distance
False
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
26.648302
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
26.648302
seq distance
False
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
26.863922
seq distance
False
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
26.863922
seq distance
False
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
27.05461
seq distance
386
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
27.05461
seq distance
386
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
30.10301
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
30.10301
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
31.237986
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
31.237986
seq distance
False
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
31.476479
seq distance
65
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
31.476479
seq distance
65
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
32.01424
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
32.01424
seq distance
False
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
32.15888
seq distance
False
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
32.15888
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
33.557846
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
33.557846
seq distance
False
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
34.464462
seq distance
67
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
34.464462
seq distance
67
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
34.657116
seq distance
105
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
34.657116
seq distance
105
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
34.835957
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
34.835957
seq distance
False
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
35.55582
seq distance
False
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
35.55582
seq distance
False
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
35.92045
seq distance
False
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
35.92045
seq distance
False
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
35.926376
seq distance
False
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
35.926376
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
37.011993
seq distance
293
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
37.011993
seq distance
293
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
37.395027
seq distance
False
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
37.395027
seq distance
False
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
37.395027
seq distance
False
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
37.395027
seq distance
False
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
37.505417
seq distance
False
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
37.505417
seq distance
False
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
37.795773
seq distance
False
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
37.795773
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
39.02525
seq distance
107
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
39.02525
seq distance
107
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
39.43777
seq distance
294
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
39.43777
seq distance
294
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
39.98123
seq distance
False
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
39.98123
seq distance
False
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
41.635307
seq distance
False
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
41.635307
seq distance
False
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
43.252148
seq distance
False
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
43.252148
seq distance
False
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
43.65078
seq distance
False
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
43.65078
seq distance
False
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
44.26473
seq distance
187
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
44.26473
seq distance
187
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
45.553772
seq distance
180
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
45.553772
seq distance
180
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
45.81839
seq distance
False
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
45.81839
seq distance
False
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
45.938187
seq distance
284
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
45.938187
seq distance
284
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
45.96262
seq distance
311
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
45.96262
seq distance
311
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
45.96262
seq distance
311
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
45.96262
seq distance
311
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
46.266735
seq distance
111
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
46.266735
seq distance
111
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
47.150406
seq distance
False
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
47.150406
seq distance
False
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
47.249954
seq distance
False
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
47.249954
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
47.57265
seq distance
192
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
47.57265
seq distance
192
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
48.01392
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
48.01392
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
48.2215
seq distance
376
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
48.2215
seq distance
376
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
48.2215
seq distance
376
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
48.2215
seq distance
376
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
48.6719
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
48.6719
seq distance
False
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
48.975212
seq distance
177
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
48.975212
seq distance
177
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
48.97995
seq distance
153
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
48.97995
seq distance
153
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
52.0353
seq distance
375
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
52.0353
seq distance
375
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
52.21259
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
52.21259
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
52.21259
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
52.21259
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
52.86828
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
52.86828
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
53.888783
seq distance
231
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
53.888783
seq distance
231
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
55.754467
seq distance
307
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
55.754467
seq distance
307
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
56.29899
seq distance
196
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
56.29899
seq distance
196
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
57.746063
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
57.746063
seq distance
False
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
58.450546
seq distance
225
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
58.450546
seq distance
225
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
58.58686
seq distance
646
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
58.58686
seq distance
646
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
58.60445
seq distance
372
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
58.60445
seq distance
372
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
59.67742
seq distance
448
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
59.67742
seq distance
448
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
60.225414
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
60.225414
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
60.57011
seq distance
420
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
60.57011
seq distance
420
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
60.83289
seq distance
365
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
60.83289
seq distance
365
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
61.072594
seq distance
236
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
61.072594
seq distance
236
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
61.477547
seq distance
663
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
61.477547
seq distance
663
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
64.15452
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
64.15452
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
64.670334
seq distance
255
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
64.670334
seq distance
255
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
64.88174
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
64.88174
seq distance
False
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
65.150955
seq distance
539
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
65.150955
seq distance
539
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
67.72531
seq distance
525
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
67.72531
seq distance
525
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
69.58014
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
69.58014
seq distance
False
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
72.317726
seq distance
901
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
72.317726
seq distance
901
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
72.42827
seq distance
False
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
72.42827
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
72.74775
seq distance
674
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
72.74775
seq distance
674
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
73.53376
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
73.53376
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
77.437126
seq distance
550
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
77.437126
seq distance
550
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
78.45753
seq distance
551
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
78.45753
seq distance
551
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
79.05482
seq distance
877
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
79.05482
seq distance
877
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
86.69776
seq distance
False
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
86.69776
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
87.35356
seq distance
504
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
87.35356
seq distance
504
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
89.53354
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
89.53354
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
91.646194
seq distance
914
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
91.646194
seq distance
914
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
91.67226
seq distance
False
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
91.67226
seq distance
False
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
92.01362
seq distance
False
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
92.01362
seq distance
False
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
94.836624
seq distance
False
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
94.836624
seq distance
False
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
94.836624
seq distance
False
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
94.836624
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
97.0047
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
97.0047
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
100.64215
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
100.64215
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
100.944855
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
100.944855
seq distance
False
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
101.58516
seq distance
717
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
101.58516
seq distance
717
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
102.65632
seq distance
480
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
102.65632
seq distance
480
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
105.07476
seq distance
721
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
105.07476
seq distance
721
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
105.07476
seq distance
721
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
105.07476
seq distance
721
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
105.34758
seq distance
572
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
105.34758
seq distance
572
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
105.50915
seq distance
False
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
105.50915
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
105.58717
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
105.58717
seq distance
False
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
105.60512
seq distance
484
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
105.60512
seq distance
484
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
105.86241
seq distance
603
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
105.86241
seq distance
603
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
107.222725
seq distance
False
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
107.222725
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
108.926956
seq distance
768
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
108.926956
seq distance
768
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
109.53507
seq distance
725
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
109.53507
seq distance
725
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
112.72436
seq distance
778
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
112.72436
seq distance
778
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
114.596756
seq distance
776
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
114.596756
seq distance
776
chain
A

Details

Redox score
65.74
PDB code
7fh1
Structure name
structure of the human meckelin
Structure deposition date
2021-07-29
Thiol separation (Å)
9.41
Half-sphere exposure sum
57
Minimum pKa
nan
% buried
nan
Peptide accession
Q5HYA8
Residue number A
49
Residue number B
65
Peptide name
Meckelin
A redox-regulated disulphide may form within Meckelin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.

Relevent regions

In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.807642
seq distance
0
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.807642
seq distance
0
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.807642
seq distance
0
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.807642
seq distance
0
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
6.427585
seq distance
13
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
6.427585
seq distance
13
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
8.426477
seq distance
15
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
8.426477
seq distance
15
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
11.243625
seq distance
7
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
11.243625
seq distance
7
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
11.634993
seq distance
False
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
11.634993
seq distance
False
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
11.634993
seq distance
False
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
11.634993
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
12.729756
seq distance
20
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
12.729756
seq distance
20
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
13.043533
seq distance
35
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
13.043533
seq distance
35
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
13.043533
seq distance
35
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
13.043533
seq distance
35
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
16.412788
seq distance
18
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
16.412788
seq distance
18
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
18.819384
seq distance
22
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
18.819384
seq distance
22
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
20.343794
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
20.343794
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
21.644558
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
21.644558
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
27.3559
seq distance
26
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
27.3559
seq distance
26
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
27.849302
seq distance
27
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
27.849302
seq distance
27
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
29.687683
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
29.687683
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
29.851328
seq distance
63
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
29.851328
seq distance
63
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
30.10016
seq distance
False
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
30.10016
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
31.70641
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
31.70641
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
31.935904
seq distance
58
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
31.935904
seq distance
301
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
31.935904
seq distance
58
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
31.935904
seq distance
301
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
32.94455
seq distance
False
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
32.94455
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
33.342037
seq distance
False
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
33.342037
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
33.342037
seq distance
False
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
33.342037
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
36.191647
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
36.191647
seq distance
False
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
36.23874
seq distance
92
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
36.23874
seq distance
92
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
36.708443
seq distance
95
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
36.708443
seq distance
95
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
37.17552
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
37.17552
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
37.17552
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
37.17552
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
37.494614
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
37.494614
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
37.778725
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
37.778725
seq distance
False
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
42.293022
seq distance
102
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
42.293022
seq distance
102
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
44.309765
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
44.309765
seq distance
False
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
44.855236
seq distance
False
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
44.855236
seq distance
False
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
47.131443
seq distance
False
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
47.131443
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
47.207615
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
47.207615
seq distance
False
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
47.532505
seq distance
False
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
47.532505
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
50.027863
seq distance
False
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
50.027863
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
50.027863
seq distance
False
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
50.027863
seq distance
False
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
50.171066
seq distance
False
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
50.171066
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
50.388477
seq distance
107
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
50.388477
seq distance
107
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
50.786522
seq distance
146
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
50.786522
seq distance
146
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
50.809734
seq distance
291
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
50.809734
seq distance
291
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
50.809734
seq distance
291
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
50.809734
seq distance
291
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
51.843678
seq distance
False
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
51.843678
seq distance
False
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
52.752434
seq distance
140
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
52.752434
seq distance
140
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
53.679752
seq distance
111
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
53.679752
seq distance
111
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
53.755272
seq distance
290
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
53.755272
seq distance
290
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
55.055645
seq distance
68
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
55.055645
seq distance
68
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
55.58597
seq distance
199
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
55.58597
seq distance
199
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
55.61712
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
55.61712
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
56.71737
seq distance
208
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
56.71737
seq distance
208
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
57.375427
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
57.375427
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
57.668842
seq distance
151
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
57.668842
seq distance
151
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
57.90387
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
57.90387
seq distance
False
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
58.842354
seq distance
False
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
58.842354
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
59.34524
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
59.34524
seq distance
False
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
59.662758
seq distance
209
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
59.662758
seq distance
209
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
59.998646
seq distance
False
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
59.998646
seq distance
False
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
60.308567
seq distance
287
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
60.308567
seq distance
287
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
60.724636
seq distance
False
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
60.724636
seq distance
False
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
63.753086
seq distance
226
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
63.753086
seq distance
226
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
63.753086
seq distance
226
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
63.753086
seq distance
226
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
64.06463
seq distance
False
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
64.06463
seq distance
False
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
64.06463
seq distance
False
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
64.06463
seq distance
False
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
65.4283
seq distance
False
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
65.4283
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
65.700325
seq distance
335
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
65.700325
seq distance
335
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
65.94065
seq distance
False
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
65.94065
seq distance
False
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
66.50889
seq distance
False
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
66.50889
seq distance
False
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
67.471855
seq distance
False
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
67.471855
seq distance
False
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
67.60628
seq distance
280
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
67.60628
seq distance
280
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
69.97136
seq distance
False
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
69.97136
seq distance
False
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
70.35359
seq distance
False
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
70.35359
seq distance
False
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
70.980606
seq distance
222
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
70.980606
seq distance
222
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
71.69541
seq distance
363
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
71.69541
seq distance
363
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
75.20495
seq distance
561
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
75.20495
seq distance
561
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
75.35232
seq distance
False
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
75.35232
seq distance
False
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
75.55315
seq distance
170
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
75.55315
seq distance
170
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
77.24495
seq distance
False
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
77.24495
seq distance
False
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
78.26523
seq distance
False
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
78.26523
seq distance
False
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
78.827225
seq distance
454
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
78.827225
seq distance
454
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
79.42035
seq distance
578
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
79.42035
seq distance
578
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
82.37746
seq distance
440
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
82.37746
seq distance
440
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
89.99386
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
89.99386
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
94.28808
seq distance
589
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
94.28808
seq distance
589
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
95.24496
seq distance
465
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
95.24496
seq distance
465
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
95.290504
seq distance
False
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
95.290504
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
96.130554
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
96.130554
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
96.95408
seq distance
466
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
96.95408
seq distance
466
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
98.2278
seq distance
816
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
98.2278
seq distance
816
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
99.92007
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
99.92007
seq distance
False
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
100.1517
seq distance
False
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
100.1517
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
100.79595
seq distance
792
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
100.79595
seq distance
792
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
105.17253
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
105.17253
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
106.34259
seq distance
419
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
106.34259
seq distance
419
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
117.08162
seq distance
829
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
117.08162
seq distance
829
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
118.80144
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
118.80144
seq distance
False
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
119.041
seq distance
False
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
119.041
seq distance
False
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
121.43584
seq distance
395
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
121.43584
seq distance
395
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
123.007065
seq distance
False
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
123.007065
seq distance
False
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
123.21795
seq distance
632
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
123.21795
seq distance
632
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
124.06295
seq distance
False
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
124.06295
seq distance
False
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
125.634125
seq distance
399
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
125.634125
seq distance
399
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
126.129974
seq distance
False
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
126.129974
seq distance
False
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
126.129974
seq distance
False
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
126.129974
seq distance
False
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
127.62504
seq distance
636
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
127.62504
seq distance
636
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
127.62504
seq distance
636
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
127.62504
seq distance
636
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
128.5922
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
128.5922
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
130.51682
seq distance
487
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
130.51682
seq distance
487
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
130.7932
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
130.7932
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
131.04938
seq distance
683
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
131.04938
seq distance
683
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
131.46603
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
131.46603
seq distance
False
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
134.20862
seq distance
518
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
134.20862
seq distance
518
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
134.233
seq distance
640
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
134.233
seq distance
640
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
135.43335
seq distance
False
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
135.43335
seq distance
False
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
135.90372
seq distance
693
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
135.90372
seq distance
693
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
136.46758
seq distance
691
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
136.46758
seq distance
691
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
136.57025
seq distance
False
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
136.57025
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
137.07414
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
137.07414
seq distance
False
chain
A

Details

Redox score
65.55
PDB code
7fh1
Structure name
structure of the human meckelin
Structure deposition date
2021-07-29
Thiol separation (Å)
8.74
Half-sphere exposure sum
59
Minimum pKa
nan
% buried
nan
Peptide accession
Q5HYA8
Residue number A
117
Residue number B
150
Peptide name
Meckelin
A redox-regulated disulphide may form within Meckelin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.

Relevent regions

In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.824165
seq distance
0
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.824165
seq distance
0
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.824165
seq distance
0
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.824165
seq distance
0
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
4.6074076
seq distance
5
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
4.6074076
seq distance
5
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
12.754408
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
12.754408
seq distance
False
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
12.754408
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
12.754408
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
13.744721
seq distance
12
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
13.744721
seq distance
12
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
13.825233
seq distance
False
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
13.825233
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
13.879479
seq distance
4
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
13.879479
seq distance
4
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
13.879479
seq distance
4
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
13.879479
seq distance
4
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
14.09262
seq distance
False
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
14.09262
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
16.670769
seq distance
46
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
16.670769
seq distance
46
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
17.16725
seq distance
21
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
17.16725
seq distance
21
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
18.539536
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
18.539536
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
19.14265
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
19.14265
seq distance
False
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
19.470325
seq distance
False
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
19.470325
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
20.074444
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
20.074444
seq distance
False
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
21.79083
seq distance
False
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
21.79083
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
22.675627
seq distance
False
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
22.675627
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
22.675627
seq distance
False
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
22.675627
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
22.843407
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
22.843407
seq distance
False
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
23.007246
seq distance
False
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
23.007246
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
25.925108
seq distance
130
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
25.925108
seq distance
130
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
26.671705
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
26.671705
seq distance
False
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
26.671705
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
26.671705
seq distance
False
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
26.869581
seq distance
False
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
26.869581
seq distance
False
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
27.054605
seq distance
373
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
27.054605
seq distance
373
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
28.90658
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
28.90658
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
31.249033
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
31.249033
seq distance
False
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
31.75813
seq distance
52
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
31.75813
seq distance
52
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
32.02584
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
32.02584
seq distance
False
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
32.174866
seq distance
False
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
32.174866
seq distance
False
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
33.582542
seq distance
False
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
33.582542
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
34.039173
seq distance
92
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
34.039173
seq distance
92
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
34.45231
seq distance
54
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
34.45231
seq distance
54
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
34.949852
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
34.949852
seq distance
False
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
35.51611
seq distance
False
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
35.51611
seq distance
False
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
35.94491
seq distance
False
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
35.94491
seq distance
False
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
35.949825
seq distance
False
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
35.949825
seq distance
False
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
36.30762
seq distance
False
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
36.30762
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
37.08517
seq distance
280
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
37.08517
seq distance
280
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
37.41535
seq distance
False
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
37.41535
seq distance
False
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
37.41535
seq distance
False
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
37.41535
seq distance
False
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
37.514122
seq distance
False
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
37.514122
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
38.302742
seq distance
94
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
38.302742
seq distance
94
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
39.43071
seq distance
281
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
39.43071
seq distance
281
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
40.005863
seq distance
False
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
40.005863
seq distance
False
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
41.654297
seq distance
False
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
41.654297
seq distance
False
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
41.75425
seq distance
False
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
41.75425
seq distance
False
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
43.67601
seq distance
False
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
43.67601
seq distance
False
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
44.26437
seq distance
174
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
44.26437
seq distance
174
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
45.553238
seq distance
167
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
45.553238
seq distance
167
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
45.675426
seq distance
98
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
45.675426
seq distance
98
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
45.829018
seq distance
False
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
45.829018
seq distance
False
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
45.937614
seq distance
271
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
45.937614
seq distance
271
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
45.96288
seq distance
298
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
45.96288
seq distance
298
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
45.96288
seq distance
298
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
45.96288
seq distance
298
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
47.17398
seq distance
False
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
47.17398
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
47.180122
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
47.180122
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
47.201916
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
47.201916
seq distance
False
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
47.272778
seq distance
False
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
47.272778
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
47.57338
seq distance
179
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
47.57338
seq distance
179
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
48.22154
seq distance
363
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
48.22154
seq distance
363
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
48.22154
seq distance
363
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
48.22154
seq distance
363
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
48.337353
seq distance
164
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
48.337353
seq distance
164
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
48.979816
seq distance
140
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
48.979816
seq distance
140
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
50.851997
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
50.851997
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
50.851997
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
50.851997
seq distance
False
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
52.035385
seq distance
362
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
52.035385
seq distance
362
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
52.10481
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
52.10481
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
53.888187
seq distance
218
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
53.888187
seq distance
218
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
55.754414
seq distance
294
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
55.754414
seq distance
294
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
56.29817
seq distance
183
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
56.29817
seq distance
183
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
56.60207
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
56.60207
seq distance
False
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
58.449562
seq distance
212
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
58.449562
seq distance
212
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
58.586926
seq distance
633
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
58.586926
seq distance
633
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
58.60415
seq distance
359
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
58.60415
seq distance
359
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
59.677757
seq distance
435
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
59.677757
seq distance
435
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
60.249725
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
60.249725
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
60.570065
seq distance
407
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
60.570065
seq distance
407
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
60.832626
seq distance
352
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
60.832626
seq distance
352
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
61.072327
seq distance
223
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
61.072327
seq distance
223
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
61.478798
seq distance
650
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
61.478798
seq distance
650
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
64.178185
seq distance
False
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
64.178185
seq distance
False
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
64.67
seq distance
242
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
64.67
seq distance
242
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
64.906204
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
64.906204
seq distance
False
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
65.1508
seq distance
526
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
65.1508
seq distance
526
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
67.72532
seq distance
512
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
67.72532
seq distance
512
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
69.60443
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
69.60443
seq distance
False
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
72.318596
seq distance
888
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
72.318596
seq distance
888
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
72.45066
seq distance
False
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
72.45066
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
72.74773
seq distance
661
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
72.74773
seq distance
661
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
73.55786
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
73.55786
seq distance
False
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
77.43735
seq distance
537
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
77.43735
seq distance
537
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
78.457596
seq distance
538
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
78.457596
seq distance
538
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
79.05525
seq distance
864
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
79.05525
seq distance
864
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
86.72195
seq distance
False
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
86.72195
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
87.35425
seq distance
491
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
87.35425
seq distance
491
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
89.557304
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
89.557304
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
91.64701
seq distance
901
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
91.64701
seq distance
901
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
91.69652
seq distance
False
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
91.69652
seq distance
False
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
92.03784
seq distance
False
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
92.03784
seq distance
False
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
94.86133
seq distance
False
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
94.86133
seq distance
False
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
94.86133
seq distance
False
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
94.86133
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
97.02964
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
97.02964
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
100.66655
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
100.66655
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
100.9696
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
100.9696
seq distance
False
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
101.58554
seq distance
704
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
101.58554
seq distance
704
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
102.657104
seq distance
467
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
102.657104
seq distance
467
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
105.07503
seq distance
708
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
105.07503
seq distance
708
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
105.07503
seq distance
708
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
105.07503
seq distance
708
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
105.348114
seq distance
559
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
105.348114
seq distance
559
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
105.53362
seq distance
False
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
105.53362
seq distance
False
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
105.605835
seq distance
471
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
105.605835
seq distance
471
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
105.61182
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
105.61182
seq distance
False
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
105.863655
seq distance
590
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
105.863655
seq distance
590
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
107.24604
seq distance
False
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
107.24604
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
108.92742
seq distance
755
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
108.92742
seq distance
755
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
109.53557
seq distance
712
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
109.53557
seq distance
712
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
112.724556
seq distance
765
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
112.724556
seq distance
765
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
114.59725
seq distance
763
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
114.59725
seq distance
763
chain
B

Details

Redox score
65.29
PDB code
7fh1
Structure name
structure of the human meckelin
Structure deposition date
2021-07-29
Thiol separation (Å)
9.33
Half-sphere exposure sum
62
Minimum pKa
nan
% buried
nan
Peptide accession
Q5HYA8
Residue number A
49
Residue number B
78
Peptide name
Meckelin
A redox-regulated disulphide may form within Meckelin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.

Relevent regions

In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.8295481
seq distance
0
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.8295481
seq distance
0
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.8295481
seq distance
0
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.8295481
seq distance
0
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
5.1790557
seq distance
11
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
5.1790557
seq distance
11
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
7.2973356
seq distance
2
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
7.2973356
seq distance
2
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
7.2973356
seq distance
2
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
7.2973356
seq distance
2
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
8.371679
seq distance
19
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
8.371679
seq distance
19
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
11.8367195
seq distance
44
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
11.8367195
seq distance
44
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
13.2584095
seq distance
10
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
13.2584095
seq distance
10
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
15.297831
seq distance
False
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
15.297831
seq distance
False
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
15.297831
seq distance
False
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
15.297831
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
15.766198
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
15.766198
seq distance
False
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
16.04723
seq distance
False
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
16.04723
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
17.878828
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
17.878828
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
17.981497
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
17.981497
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
20.544994
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
20.544994
seq distance
False
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
23.413595
seq distance
False
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
23.413595
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
23.52599
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
23.52599
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
23.95083
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
23.95083
seq distance
False
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
26.103489
seq distance
50
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
26.103489
seq distance
50
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
28.6203
seq distance
False
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
28.6203
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
28.6203
seq distance
False
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
28.6203
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
29.168858
seq distance
90
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
29.168858
seq distance
90
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
29.203068
seq distance
False
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
29.203068
seq distance
False
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
29.3902
seq distance
52
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
29.3902
seq distance
52
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
29.527605
seq distance
False
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
29.527605
seq distance
False
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
30.213333
seq distance
False
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
30.213333
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
30.271984
seq distance
128
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
30.271984
seq distance
371
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
30.271984
seq distance
128
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
30.271984
seq distance
371
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
31.698082
seq distance
False
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
31.698082
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
34.675877
seq distance
92
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
34.675877
seq distance
92
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
34.97218
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
34.97218
seq distance
False
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
34.97218
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
34.97218
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
35.175453
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
35.175453
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
36.398502
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
36.398502
seq distance
False
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
37.318127
seq distance
False
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
37.318127
seq distance
False
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
37.794052
seq distance
False
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
37.794052
seq distance
False
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
40.43794
seq distance
False
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
40.43794
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
42.137947
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
42.137947
seq distance
False
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
42.943626
seq distance
False
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
42.943626
seq distance
False
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
43.15203
seq distance
False
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
43.15203
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
43.523727
seq distance
96
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
43.523727
seq distance
96
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
44.06639
seq distance
278
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
44.06639
seq distance
278
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
44.612984
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
44.612984
seq distance
False
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
44.77978
seq distance
False
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
44.77978
seq distance
False
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
45.06354
seq distance
False
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
45.06354
seq distance
False
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
45.437424
seq distance
False
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
45.437424
seq distance
False
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
45.437424
seq distance
False
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
45.437424
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
45.666786
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
45.666786
seq distance
False
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
46.479683
seq distance
279
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
46.479683
seq distance
279
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
46.5296
seq distance
165
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
46.5296
seq distance
165
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
47.086926
seq distance
172
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
47.086926
seq distance
172
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
47.990955
seq distance
False
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
47.990955
seq distance
False
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
48.066456
seq distance
162
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
48.066456
seq distance
162
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
48.14366
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
48.14366
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
48.14366
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
48.14366
seq distance
False
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
49.209705
seq distance
False
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
49.209705
seq distance
False
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
49.64383
seq distance
False
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
49.64383
seq distance
False
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
50.85473
seq distance
269
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
50.85473
seq distance
269
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
51.802807
seq distance
177
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
51.802807
seq distance
177
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
52.205315
seq distance
361
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
52.205315
seq distance
361
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
52.205315
seq distance
361
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
52.205315
seq distance
361
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
52.35957
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
52.35957
seq distance
False
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
52.9941
seq distance
False
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
52.9941
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
53.05751
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
53.05751
seq distance
False
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
53.10325
seq distance
296
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
53.10325
seq distance
296
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
53.10325
seq distance
296
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
53.10325
seq distance
296
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
53.929344
seq distance
138
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
53.929344
seq distance
138
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
55.550125
seq distance
False
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
55.550125
seq distance
False
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
56.009727
seq distance
360
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
56.009727
seq distance
360
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
56.0911
seq distance
False
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
56.0911
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
56.776745
seq distance
216
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
56.776745
seq distance
216
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
59.71458
seq distance
181
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
59.71458
seq distance
181
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
60.921844
seq distance
210
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
60.921844
seq distance
210
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
62.34908
seq distance
292
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
62.34908
seq distance
292
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
63.024723
seq distance
357
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
63.024723
seq distance
357
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
64.446465
seq distance
221
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
64.446465
seq distance
221
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
65.410904
seq distance
405
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
65.410904
seq distance
405
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
65.49101
seq distance
631
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
65.49101
seq distance
631
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
65.97388
seq distance
433
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
65.97388
seq distance
433
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
66.48305
seq distance
350
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
66.48305
seq distance
350
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
68.995865
seq distance
648
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
68.995865
seq distance
648
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
69.54686
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
69.54686
seq distance
False
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
70.31018
seq distance
240
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
70.31018
seq distance
240
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
72.16191
seq distance
524
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
72.16191
seq distance
524
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
72.76947
seq distance
False
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
72.76947
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
73.69173
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
73.69173
seq distance
False
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
74.444916
seq distance
510
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
74.444916
seq distance
510
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
78.612656
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
78.612656
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
80.7757
seq distance
659
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
80.7757
seq distance
659
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
81.16908
seq distance
False
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
81.16908
seq distance
False
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
81.28117
seq distance
886
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
81.28117
seq distance
886
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
82.406136
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
82.406136
seq distance
False
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
85.37606
seq distance
535
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
85.37606
seq distance
535
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
86.47187
seq distance
536
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
86.47187
seq distance
536
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
87.49622
seq distance
862
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
87.49622
seq distance
862
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
95.52442
seq distance
489
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
95.52442
seq distance
489
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
95.616936
seq distance
False
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
95.616936
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
98.446655
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
98.446655
seq distance
False
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
100.61112
seq distance
False
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
100.61112
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
100.68557
seq distance
899
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
100.68557
seq distance
899
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
100.95318
seq distance
False
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
100.95318
seq distance
False
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
103.97092
seq distance
False
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
103.97092
seq distance
False
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
103.97092
seq distance
False
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
103.97092
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
106.18697
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
106.18697
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
109.74314
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
109.74314
seq distance
False
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
110.23277
seq distance
702
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
110.23277
seq distance
702
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
110.27738
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
110.27738
seq distance
False
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
110.87824
seq distance
465
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
110.87824
seq distance
465
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
113.783264
seq distance
706
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
113.783264
seq distance
706
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
113.783264
seq distance
706
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
113.783264
seq distance
706
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
114.038826
seq distance
469
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
114.038826
seq distance
469
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
114.37283
seq distance
557
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
114.37283
seq distance
557
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
114.428444
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
114.428444
seq distance
False
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
114.452675
seq distance
False
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
114.452675
seq distance
False
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
115.114655
seq distance
588
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
115.114655
seq distance
588
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
116.34124
seq distance
False
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
116.34124
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
117.563614
seq distance
753
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
117.563614
seq distance
753
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
118.36944
seq distance
710
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
118.36944
seq distance
710
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
121.614784
seq distance
763
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
121.614784
seq distance
763
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
123.357834
seq distance
761
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
123.357834
seq distance
761
chain
B

Details

Redox score
64.34
PDB code
7fh1
Structure name
structure of the human meckelin
Structure deposition date
2021-07-29
Thiol separation (Å)
9.6
Half-sphere exposure sum
65
Minimum pKa
nan
% buried
nan
Peptide accession
Q5HYA8
Residue number A
65
Residue number B
80
Peptide name
Meckelin
A redox-regulated disulphide may form within Meckelin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.

Relevent regions

In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.800905
seq distance
0
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.800905
seq distance
0
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.800905
seq distance
0
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.800905
seq distance
0
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
7.000725
seq distance
12
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
7.000725
seq distance
12
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
8.594858
seq distance
8
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
8.594858
seq distance
8
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
10.702012
seq distance
14
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
10.702012
seq distance
14
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
11.519788
seq distance
False
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
11.519788
seq distance
False
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
11.519788
seq distance
False
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
11.519788
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
11.81089
seq distance
22
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
11.81089
seq distance
22
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
11.848745
seq distance
52
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
11.848745
seq distance
52
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
14.379318
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
14.379318
seq distance
False
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
17.25927
seq distance
56
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
17.25927
seq distance
56
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
17.82183
seq distance
59
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
17.82183
seq distance
59
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
17.856443
seq distance
54
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
17.856443
seq distance
54
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
22.458107
seq distance
265
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
22.458107
seq distance
265
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
23.837793
seq distance
66
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
23.837793
seq distance
66
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
24.16202
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
24.16202
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
25.494417
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
25.494417
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
25.678074
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
25.678074
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
25.678074
seq distance
False
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
25.678074
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
27.173944
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
27.173944
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
29.574858
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
29.574858
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
29.6408
seq distance
60
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
29.6408
seq distance
60
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
30.096642
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
30.096642
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
30.98334
seq distance
110
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
30.98334
seq distance
110
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
31.762
seq distance
104
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
31.762
seq distance
104
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
31.95894
seq distance
75
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
31.95894
seq distance
75
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
32.06209
seq distance
71
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
32.06209
seq distance
71
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
32.569584
seq distance
False
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
32.569584
seq distance
False
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
32.61058
seq distance
False
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
32.61058
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
33.376175
seq distance
255
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
33.376175
seq distance
255
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
33.376175
seq distance
255
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
33.376175
seq distance
255
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
34.342587
seq distance
102
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
34.342587
seq distance
102
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
34.342587
seq distance
102
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
34.342587
seq distance
102
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
35.203606
seq distance
115
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
35.203606
seq distance
115
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
35.219913
seq distance
254
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
35.219913
seq distance
254
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
38.435184
seq distance
32
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
38.435184
seq distance
32
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
39.73546
seq distance
251
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
39.73546
seq distance
251
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
40.593246
seq distance
85
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
40.593246
seq distance
85
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
40.88842
seq distance
94
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
40.88842
seq distance
94
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
40.96193
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
40.96193
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
41.092453
seq distance
False
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
41.092453
seq distance
False
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
41.452507
seq distance
False
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
41.452507
seq distance
False
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
43.347115
seq distance
163
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
43.347115
seq distance
163
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
43.549313
seq distance
130
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
43.549313
seq distance
130
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
44.643757
seq distance
False
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
44.643757
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
45.46595
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
45.46595
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
47.906853
seq distance
299
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
47.906853
seq distance
299
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
48.25525
seq distance
244
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
48.25525
seq distance
244
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
48.532635
seq distance
172
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
48.532635
seq distance
172
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
51.422115
seq distance
False
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
51.422115
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
51.584175
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
51.584175
seq distance
False
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
51.632977
seq distance
173
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
51.632977
seq distance
173
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
52.05273
seq distance
False
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
52.05273
seq distance
False
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
52.194813
seq distance
190
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
52.194813
seq distance
190
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
52.194813
seq distance
190
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
52.194813
seq distance
190
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
52.488766
seq distance
False
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
52.488766
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
54.967583
seq distance
False
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
54.967583
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
54.967583
seq distance
False
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
54.967583
seq distance
False
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
56.0664
seq distance
327
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
56.0664
seq distance
327
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
56.241814
seq distance
False
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
56.241814
seq distance
False
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
58.032944
seq distance
186
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
58.032944
seq distance
186
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
58.108204
seq distance
False
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
58.108204
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
58.761948
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
58.761948
seq distance
False
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
58.8653
seq distance
False
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
58.8653
seq distance
False
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
60.996487
seq distance
False
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
60.996487
seq distance
False
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
60.996487
seq distance
False
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
60.996487
seq distance
False
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
61.314117
seq distance
134
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
61.314117
seq distance
134
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
62.11366
seq distance
418
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
62.11366
seq distance
418
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
62.49533
seq distance
525
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
62.49533
seq distance
525
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
65.25371
seq distance
False
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
65.25371
seq distance
False
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
65.70907
seq distance
542
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
65.70907
seq distance
542
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
66.031006
seq distance
False
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
66.031006
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
66.20671
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
66.20671
seq distance
False
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
66.482544
seq distance
False
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
66.482544
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
66.96426
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
66.96426
seq distance
False
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
67.3119
seq distance
False
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
67.3119
seq distance
False
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
67.88546
seq distance
404
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
67.88546
seq distance
404
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
68.37908
seq distance
False
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
68.37908
seq distance
False
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
68.526695
seq distance
False
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
68.526695
seq distance
False
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
70.063866
seq distance
False
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
70.063866
seq distance
False
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
74.26375
seq distance
False
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
74.26375
seq distance
False
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
75.41089
seq distance
False
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
75.41089
seq distance
False
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
76.11664
seq distance
False
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
76.11664
seq distance
False
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
79.25026
seq distance
429
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
79.25026
seq distance
429
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
80.026405
seq distance
False
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
80.026405
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
81.37158
seq distance
430
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
81.37158
seq distance
430
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
82.039665
seq distance
553
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
82.039665
seq distance
553
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
85.29187
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
85.29187
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
87.03802
seq distance
756
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
87.03802
seq distance
756
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
87.22517
seq distance
780
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
87.22517
seq distance
780
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
90.45431
seq distance
383
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
90.45431
seq distance
383
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
92.25701
seq distance
False
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
92.25701
seq distance
False
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
94.75129
seq distance
False
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
94.75129
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
95.036064
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
95.036064
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
95.968254
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
95.968254
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
104.01333
seq distance
False
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
104.01333
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
104.54133
seq distance
793
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
104.54133
seq distance
793
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
104.80311
seq distance
359
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
104.80311
seq distance
359
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
107.965096
seq distance
596
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
107.965096
seq distance
596
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
109.44249
seq distance
363
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
109.44249
seq distance
363
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
111.933266
seq distance
False
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
111.933266
seq distance
False
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
112.96045
seq distance
600
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
112.96045
seq distance
600
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
112.96045
seq distance
600
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
112.96045
seq distance
600
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
116.12322
seq distance
647
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
116.12322
seq distance
647
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
117.32201
seq distance
451
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
117.32201
seq distance
451
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
118.527626
seq distance
False
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
118.527626
seq distance
False
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
119.935196
seq distance
False
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
119.935196
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
120.79688
seq distance
655
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
120.79688
seq distance
655
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
121.08579
seq distance
657
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
121.08579
seq distance
657
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
121.10055
seq distance
604
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
121.10055
seq distance
604
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
122.218445
seq distance
False
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
122.218445
seq distance
False
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
122.218445
seq distance
False
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
122.218445
seq distance
False
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
122.52779
seq distance
False
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
122.52779
seq distance
False
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
124.12698
seq distance
482
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
124.12698
seq distance
482
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
124.41554
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
124.41554
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
125.117455
seq distance
False
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
125.117455
seq distance
False
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
125.24409
seq distance
False
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
125.24409
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
125.356476
seq distance
False
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
125.356476
seq distance
False
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
132.29439
seq distance
False
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
132.29439
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
134.05971
seq distance
False
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
134.05971
seq distance
False
chain
A

Details

Redox score
63.92
PDB code
7fh1
Structure name
structure of the human meckelin
Structure deposition date
2021-07-29
Thiol separation (Å)
9.86
Half-sphere exposure sum
58
Minimum pKa
nan
% buried
nan
Peptide accession
Q5HYA8
Residue number A
184
Residue number B
186
Peptide name
Meckelin
A redox-regulated disulphide may form within Meckelin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.

Relevent regions

In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.824159
seq distance
0
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.824159
seq distance
0
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.824159
seq distance
0
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.824159
seq distance
0
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
4.6075726
seq distance
24
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
4.6075726
seq distance
24
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
7.2971635
seq distance
2
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
7.2971635
seq distance
2
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
7.2971635
seq distance
2
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
7.2971635
seq distance
2
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
8.372049
seq distance
19
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
8.372049
seq distance
19
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
11.836913
seq distance
44
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
11.836913
seq distance
44
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
13.257828
seq distance
10
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
13.257828
seq distance
10
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
13.815231
seq distance
False
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
13.815231
seq distance
False
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
13.815231
seq distance
False
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
13.815231
seq distance
False
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
13.815231
seq distance
False
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
13.815231
seq distance
False
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
14.088459
seq distance
False
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
14.088459
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
17.882504
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
17.882504
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
17.977596
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
17.977596
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
18.531143
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
18.531143
seq distance
False
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
22.202267
seq distance
False
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
22.202267
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
22.527933
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
22.527933
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
23.531942
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
23.531942
seq distance
False
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
26.103237
seq distance
50
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
26.103237
seq distance
50
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
27.083794
seq distance
False
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
27.083794
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
27.083794
seq distance
False
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
27.083794
seq distance
False
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
27.597443
seq distance
False
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
27.597443
seq distance
False
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
27.794659
seq distance
False
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
27.794659
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
29.169003
seq distance
90
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
29.169003
seq distance
90
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
29.274248
seq distance
False
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
29.274248
seq distance
False
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
29.390057
seq distance
52
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
29.390057
seq distance
52
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
30.269947
seq distance
128
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
30.269947
seq distance
371
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
30.269947
seq distance
128
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
30.269947
seq distance
371
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
31.702477
seq distance
False
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
31.702477
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
33.763332
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
33.763332
seq distance
False
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
34.207573
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
34.207573
seq distance
False
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
34.207573
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
34.207573
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
34.61535
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
34.61535
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
34.675346
seq distance
92
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
34.675346
seq distance
92
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
36.400608
seq distance
False
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
36.400608
seq distance
False
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
37.32317
seq distance
False
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
37.32317
seq distance
False
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
38.69019
seq distance
False
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
38.69019
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
40.857876
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
40.857876
seq distance
False
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
42.157333
seq distance
False
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
42.157333
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
42.724106
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
42.724106
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
42.963036
seq distance
278
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
42.963036
seq distance
278
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
43.523624
seq distance
96
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
43.523624
seq distance
96
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
43.953625
seq distance
False
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
43.953625
seq distance
False
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
44.267467
seq distance
False
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
44.267467
seq distance
False
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
44.267467
seq distance
False
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
44.267467
seq distance
False
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
44.34653
seq distance
False
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
44.34653
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
44.612377
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
44.612377
seq distance
False
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
45.34434
seq distance
279
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
45.34434
seq distance
279
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
45.663593
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
45.663593
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
45.862118
seq distance
165
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
45.862118
seq distance
165
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
46.55676
seq distance
172
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
46.55676
seq distance
172
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
46.58538
seq distance
False
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
46.58538
seq distance
False
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
47.760624
seq distance
False
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
47.760624
seq distance
False
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
48.065784
seq distance
162
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
48.065784
seq distance
162
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
48.144
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
48.144
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
48.144
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
48.144
seq distance
False
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
48.559616
seq distance
False
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
48.559616
seq distance
False
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
49.603855
seq distance
269
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
49.603855
seq distance
269
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
51.349194
seq distance
177
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
51.349194
seq distance
177
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
51.364304
seq distance
361
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
51.364304
seq distance
361
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
51.364304
seq distance
361
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
51.364304
seq distance
361
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
52.102833
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
52.102833
seq distance
False
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
52.188206
seq distance
296
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
52.188206
seq distance
296
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
52.188206
seq distance
296
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
52.188206
seq distance
296
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
52.534103
seq distance
False
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
52.534103
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
53.060806
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
53.060806
seq distance
False
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
53.961346
seq distance
138
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
53.961346
seq distance
138
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
54.512096
seq distance
False
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
54.512096
seq distance
False
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
55.15979
seq distance
360
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
55.15979
seq distance
360
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
55.22294
seq distance
False
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
55.22294
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
55.899395
seq distance
216
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
55.899395
seq distance
216
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
59.455242
seq distance
181
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
59.455242
seq distance
181
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
60.03731
seq distance
210
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
60.03731
seq distance
210
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
61.188576
seq distance
292
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
61.188576
seq distance
292
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
62.394814
seq distance
357
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
62.394814
seq distance
357
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
63.86625
seq distance
221
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
63.86625
seq distance
221
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
64.32869
seq distance
631
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
64.32869
seq distance
631
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
64.34993
seq distance
405
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
64.34993
seq distance
405
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
64.952354
seq distance
433
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
64.952354
seq distance
433
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
65.99358
seq distance
350
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
65.99358
seq distance
350
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
68.065445
seq distance
648
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
68.065445
seq distance
648
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
68.96783
seq distance
240
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
68.96783
seq distance
240
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
68.97042
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
68.97042
seq distance
False
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
71.423546
seq distance
524
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
71.423546
seq distance
524
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
71.82225
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
71.82225
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
72.82091
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
72.82091
seq distance
False
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
73.27001
seq distance
510
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
73.27001
seq distance
510
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
77.78993
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
77.78993
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
79.73387
seq distance
659
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
79.73387
seq distance
659
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
80.18441
seq distance
False
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
80.18441
seq distance
False
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
80.6627
seq distance
886
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
80.6627
seq distance
886
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
81.60496
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
81.60496
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
84.72053
seq distance
535
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
84.72053
seq distance
535
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
85.752335
seq distance
536
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
85.752335
seq distance
536
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
86.74163
seq distance
862
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
86.74163
seq distance
862
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
94.81774
seq distance
489
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
94.81774
seq distance
489
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
94.95699
seq distance
False
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
94.95699
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
97.52609
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
97.52609
seq distance
False
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
99.81079
seq distance
False
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
99.81079
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
100.14518
seq distance
899
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
100.14518
seq distance
899
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
100.24921
seq distance
False
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
100.24921
seq distance
False
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
103.28147
seq distance
False
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
103.28147
seq distance
False
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
103.28147
seq distance
False
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
103.28147
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
105.57415
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
105.57415
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
108.95285
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
108.95285
seq distance
False
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
109.62182
seq distance
702
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
109.62182
seq distance
702
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
109.71481
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
109.71481
seq distance
False
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
110.14633
seq distance
465
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
110.14633
seq distance
465
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
113.08166
seq distance
706
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
113.08166
seq distance
706
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
113.08166
seq distance
706
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
113.08166
seq distance
706
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
113.360374
seq distance
469
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
113.360374
seq distance
469
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
113.60358
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
113.60358
seq distance
False
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
113.630646
seq distance
False
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
113.630646
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
113.77314
seq distance
557
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
113.77314
seq distance
557
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
114.51738
seq distance
588
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
114.51738
seq distance
588
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
115.563194
seq distance
False
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
115.563194
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
116.80997
seq distance
753
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
116.80997
seq distance
753
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
117.565926
seq distance
710
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
117.565926
seq distance
710
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
121.084526
seq distance
763
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
121.084526
seq distance
763
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
122.84066
seq distance
761
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
122.84066
seq distance
761
chain
A

Details

Redox score
63.62
PDB code
7fh1
Structure name
structure of the human meckelin
Structure deposition date
2021-07-29
Thiol separation (Å)
9.62
Half-sphere exposure sum
71
Minimum pKa
nan
% buried
nan
Peptide accession
Q5HYA8
Residue number A
78
Residue number B
80
Peptide name
Meckelin
A redox-regulated disulphide may form within Meckelin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.

Relevent regions

In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.8365715
seq distance
0
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.8365715
seq distance
0
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.8365715
seq distance
0
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.8365715
seq distance
0
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
3.4674253
seq distance
14
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
3.4674253
seq distance
14
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
5.8248277
seq distance
False
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
5.8248277
seq distance
False
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
5.8248277
seq distance
False
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
5.8248277
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
7.0010023
seq distance
12
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
7.0010023
seq distance
12
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
7.6898727
seq distance
21
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
7.6898727
seq distance
21
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
9.362923
seq distance
8
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
9.362923
seq distance
8
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
12.216852
seq distance
23
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
12.216852
seq distance
23
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
14.362092
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
14.362092
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
17.498405
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
17.498405
seq distance
False
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
18.423687
seq distance
24
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
18.423687
seq distance
24
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
19.55102
seq distance
58
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
19.55102
seq distance
58
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
21.652086
seq distance
61
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
21.652086
seq distance
61
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
21.780634
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
21.780634
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
22.441652
seq distance
29
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
22.441652
seq distance
29
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
24.164747
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
24.164747
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
25.67587
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
25.67587
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
25.67587
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
25.67587
seq distance
False
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
26.077663
seq distance
False
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
26.077663
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
26.372353
seq distance
71
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
26.372353
seq distance
71
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
26.372353
seq distance
71
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
26.372353
seq distance
71
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
26.667841
seq distance
267
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
26.667841
seq distance
267
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
27.1704
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
27.1704
seq distance
False
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
27.516642
seq distance
False
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
27.516642
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
29.558666
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
29.558666
seq distance
False
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
29.634007
seq distance
68
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
29.634007
seq distance
68
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
31.476175
seq distance
54
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
31.476175
seq distance
54
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
33.002968
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
33.002968
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
33.10136
seq distance
63
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
33.10136
seq distance
63
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
35.428204
seq distance
112
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
35.428204
seq distance
112
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
36.29044
seq distance
106
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
36.29044
seq distance
106
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
36.41733
seq distance
False
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
36.41733
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
37.46239
seq distance
99
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
37.46239
seq distance
99
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
37.71225
seq distance
False
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
37.71225
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
37.74569
seq distance
257
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
37.74569
seq distance
257
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
37.74569
seq distance
257
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
37.74569
seq distance
257
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
38.46822
seq distance
73
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
38.46822
seq distance
73
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
39.003654
seq distance
False
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
39.003654
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
39.452244
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
39.452244
seq distance
False
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
39.880352
seq distance
256
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
39.880352
seq distance
256
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
40.192917
seq distance
77
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
40.192917
seq distance
77
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
42.136894
seq distance
117
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
42.136894
seq distance
117
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
44.949142
seq distance
165
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
44.949142
seq distance
165
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
46.04515
seq distance
34
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
46.04515
seq distance
34
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
46.11995
seq distance
253
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
46.11995
seq distance
253
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
46.76793
seq distance
False
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
46.76793
seq distance
False
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
50.1056
seq distance
False
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
50.1056
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
50.283367
seq distance
174
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
50.283367
seq distance
174
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
50.990494
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
50.990494
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
51.019356
seq distance
False
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
51.019356
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
51.019356
seq distance
False
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
51.019356
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
51.731606
seq distance
301
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
51.731606
seq distance
301
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
52.32243
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
52.32243
seq distance
False
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
52.98909
seq distance
False
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
52.98909
seq distance
False
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
53.029083
seq distance
175
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
53.029083
seq distance
175
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
53.84555
seq distance
False
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
53.84555
seq distance
False
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
53.87512
seq distance
False
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
53.87512
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
54.866863
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
54.866863
seq distance
False
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
55.02034
seq distance
246
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
55.02034
seq distance
246
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
55.329105
seq distance
192
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
55.329105
seq distance
192
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
55.329105
seq distance
192
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
55.329105
seq distance
192
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
59.860653
seq distance
329
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
59.860653
seq distance
329
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
60.660255
seq distance
188
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
60.660255
seq distance
188
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
60.95948
seq distance
False
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
60.95948
seq distance
False
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
61.00046
seq distance
False
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
61.00046
seq distance
False
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
61.00046
seq distance
False
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
61.00046
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
61.491337
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
61.491337
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
62.668068
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
62.668068
seq distance
False
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
62.883553
seq distance
False
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
62.883553
seq distance
False
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
63.35853
seq distance
False
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
63.35853
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
63.36327
seq distance
136
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
63.36327
seq distance
136
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
65.12376
seq distance
527
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
65.12376
seq distance
527
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
65.57706
seq distance
False
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
65.57706
seq distance
False
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
67.359985
seq distance
420
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
67.359985
seq distance
420
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
68.153946
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
68.153946
seq distance
False
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
68.29453
seq distance
False
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
68.29453
seq distance
False
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
69.46307
seq distance
False
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
69.46307
seq distance
False
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
69.50594
seq distance
544
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
69.50594
seq distance
544
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
70.830246
seq distance
False
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
70.830246
seq distance
False
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
70.9154
seq distance
406
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
70.9154
seq distance
406
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
75.98754
seq distance
False
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
75.98754
seq distance
False
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
76.54176
seq distance
False
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
76.54176
seq distance
False
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
78.16144
seq distance
False
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
78.16144
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
84.665665
seq distance
431
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
84.665665
seq distance
431
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
85.13162
seq distance
555
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
85.13162
seq distance
555
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
86.46663
seq distance
432
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
86.46663
seq distance
432
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
87.99799
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
87.99799
seq distance
False
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
91.306725
seq distance
782
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
91.306725
seq distance
782
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
91.52203
seq distance
758
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
91.52203
seq distance
758
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
94.40537
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
94.40537
seq distance
False
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
94.46327
seq distance
False
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
94.46327
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
95.286964
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
95.286964
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
95.69686
seq distance
385
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
95.69686
seq distance
385
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
97.7949
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
97.7949
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
104.579704
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
104.579704
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
109.33911
seq distance
795
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
109.33911
seq distance
795
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
110.18192
seq distance
361
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
110.18192
seq distance
361
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
113.35576
seq distance
598
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
113.35576
seq distance
598
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
114.15464
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
114.15464
seq distance
False
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
114.882866
seq distance
365
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
114.882866
seq distance
365
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
117.89976
seq distance
602
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
117.89976
seq distance
602
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
117.89976
seq distance
602
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
117.89976
seq distance
602
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
119.27954
seq distance
False
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
119.27954
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
120.97084
seq distance
649
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
120.97084
seq distance
649
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
121.63072
seq distance
False
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
121.63072
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
122.1494
seq distance
453
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
122.1494
seq distance
453
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
123.71556
seq distance
False
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
123.71556
seq distance
False
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
124.48802
seq distance
False
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
124.48802
seq distance
False
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
124.48802
seq distance
False
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
124.48802
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
125.27793
seq distance
606
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
125.27793
seq distance
606
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
126.6044
seq distance
657
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
126.6044
seq distance
657
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
126.60473
seq distance
659
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
126.60473
seq distance
659
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
126.97098
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
126.97098
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
127.51867
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
127.51867
seq distance
False
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
128.14633
seq distance
484
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
128.14633
seq distance
484
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
128.57639
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
128.57639
seq distance
False
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
128.73991
seq distance
False
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
128.73991
seq distance
False
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
134.23311
seq distance
False
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
134.23311
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
135.6516
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
135.6516
seq distance
False
chain
B

Details

Redox score
63.51
PDB code
7fh1
Structure name
structure of the human meckelin
Structure deposition date
2021-07-29
Thiol separation (Å)
9.99
Half-sphere exposure sum
64
Minimum pKa
nan
% buried
nan
Peptide accession
Q5HYA8
Residue number A
153
Residue number B
184
Peptide name
Meckelin
A redox-regulated disulphide may form within Meckelin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.

Relevent regions

In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.8111405
seq distance
0
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
2.8111405
seq distance
0
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.8111405
seq distance
0
chain
A
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
2.8111405
seq distance
0
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
7.0010023
seq distance
12
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
7.0010023
seq distance
12
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
7.107765
seq distance
8
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
7.107765
seq distance
8
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
10.701904
seq distance
14
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
10.701904
seq distance
14
chain
A
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
11.532249
seq distance
False
chain
B
In JBTS6.
original residue
variation residue
begin
44
end
988
score
90.2861952861953
distance
11.532249
seq distance
False
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
11.532249
seq distance
False
chain
B
Cysteine-rich
begin
39
end
280
score
99.77460555972954
distance
11.532249
seq distance
False
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
11.651597
seq distance
11
chain
A
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
11.651597
seq distance
11
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
11.849408
seq distance
52
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
11.849408
seq distance
52
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
13.28857
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
13.28857
seq distance
False
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
15.951333
seq distance
45
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
15.951333
seq distance
45
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
17.08401
seq distance
48
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
17.08401
seq distance
48
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
17.856504
seq distance
54
chain
A
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
17.856504
seq distance
54
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
23.515882
seq distance
254
chain
A
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
23.515882
seq distance
254
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
23.757942
seq distance
55
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
23.757942
seq distance
55
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
24.164747
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
24.164747
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
25.495365
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
C
variation residue
Y
position
170
score
100.0
distance
25.495365
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
25.67587
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
25.67587
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
25.67587
seq distance
False
chain
B
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
25.67587
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
27.1704
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
27.1704
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
29.518295
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
29.518295
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
29.641384
seq distance
60
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs375824494.
original residue
E
variation residue
K
position
124
score
100.0
distance
29.641384
seq distance
60
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
30.060953
seq distance
99
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
30.060953
seq distance
99
chain
A
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
30.095385
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs750950408.
original residue
R
variation residue
Q
position
172
score
100.0
distance
30.095385
seq distance
False
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
30.596107
seq distance
93
chain
A
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
30.596107
seq distance
93
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
31.878801
seq distance
64
chain
A
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
31.878801
seq distance
64
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
32.080776
seq distance
60
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
32.080776
seq distance
60
chain
A
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
32.57157
seq distance
False
chain
B
In COACH1; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model; dbSNP:rs1490496033.
original residue
G
variation residue
A
position
132
score
100.0
distance
32.57157
seq distance
False
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
32.614067
seq distance
False
chain
B
In COACH1; dbSNP:rs863225226.
original residue
P
variation residue
R
position
130
score
100.0
distance
32.614067
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
32.90232
seq distance
244
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
32.90232
seq distance
244
chain
A
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
32.90232
seq distance
244
chain
A
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
32.90232
seq distance
244
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
34.34303
seq distance
102
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
34.34303
seq distance
102
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs772437766.
original residue
P
variation residue
R
position
82
score
100.0
distance
34.34303
seq distance
102
chain
A
In JBTS6; unknown pathological significance; dbSNP:rs762543032.
original residue
P
variation residue
S
position
82
score
100.0
distance
34.34303
seq distance
102
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
34.511078
seq distance
104
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
34.511078
seq distance
104
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
34.603886
seq distance
243
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
34.603886
seq distance
243
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
39.06397
seq distance
21
chain
A
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
39.06397
seq distance
21
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
39.24066
seq distance
240
chain
A
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
39.24066
seq distance
240
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
40.593
seq distance
85
chain
A
In COACH1; unknown pathological significance; dbSNP:rs797046045.
original residue
K
variation residue
N
position
99
score
100.0
distance
40.593
seq distance
85
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
40.88929
seq distance
94
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
N
variation residue
K
position
90
score
100.0
distance
40.88929
seq distance
94
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
40.957603
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
T
variation residue
I
position
176
score
100.0
distance
40.957603
seq distance
False
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
41.075897
seq distance
False
chain
B
In JBTS6, MKS3 and RHYNS.
original residue
variation residue
begin
208
end
988
score
88.40647188918636
distance
41.075897
seq distance
False
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
41.438953
seq distance
False
chain
B
In MKS3.
original residue
variation residue
begin
451
end
988
score
83.32629266644138
distance
41.438953
seq distance
False
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
42.851433
seq distance
152
chain
A
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
42.851433
seq distance
152
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
43.549202
seq distance
130
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834188.
original residue
Y
variation residue
C
position
54
score
100.0
distance
43.549202
seq distance
130
chain
A
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
44.63461
seq distance
False
chain
B
In COACH1 and JBTS6.
original residue
N
variation residue
S
position
242
score
100.0
distance
44.63461
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
45.454582
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834206.
original residue
S
variation residue
F
position
245
score
100.0
distance
45.454582
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
47.09187
seq distance
288
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
47.09187
seq distance
288
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
48.068386
seq distance
233
chain
A
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
48.068386
seq distance
233
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
48.664402
seq distance
161
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
48.664402
seq distance
161
chain
A
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
51.408463
seq distance
False
chain
B
In MKS3, JBTS6 and COACH1; loss of interaction with WNT5A; dbSNP:rs202149403.
original residue
M
variation residue
T
position
252
score
100.0
distance
51.408463
seq distance
False
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
51.590874
seq distance
162
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
51.590874
seq distance
162
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
51.704792
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs863225232.
original residue
P
variation residue
L
position
358
score
100.0
distance
51.704792
seq distance
False
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
52.032578
seq distance
False
chain
B
In COACH1 and MKS3; loss of interaction with WNT5A; dbSNP:rs386834180.
original residue
L
variation residue
S
position
349
score
100.0
distance
52.032578
seq distance
False
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
52.177807
seq distance
179
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
52.177807
seq distance
179
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
52.177807
seq distance
179
chain
A
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
52.177807
seq distance
179
chain
A
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
52.6915
seq distance
False
chain
B
Does not affect Wnt signaling regulation; when expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
D
variation residue
E
position
359
score
100.0
distance
52.6915
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
54.95114
seq distance
False
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
54.95114
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs752362727.
original residue
R
variation residue
C
position
441
score
100.0
distance
54.95114
seq distance
False
chain
B
In MKS3; dbSNP:rs386834183.
original residue
R
variation residue
L
position
441
score
100.0
distance
54.95114
seq distance
False
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
55.57637
seq distance
316
chain
A
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
55.57637
seq distance
316
chain
A
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
56.22729
seq distance
False
chain
B
In MKS3; unknown pathological significance; dbSNP:rs386834208.
original residue
W
variation residue
C
position
296
score
100.0
distance
56.22729
seq distance
False
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
57.61574
seq distance
175
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
57.61574
seq distance
175
chain
A
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
58.09198
seq distance
False
chain
B
In MKS3 and COACH1; loss of interaction with WNT5A; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs386834182.
original residue
R
variation residue
Q
position
440
score
100.0
distance
58.09198
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
58.746925
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225227.
original residue
M
variation residue
V
position
257
score
100.0
distance
58.746925
seq distance
False
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
58.851814
seq distance
False
chain
B
In NPHP11; dbSNP:rs267607117.
original residue
W
variation residue
L
position
290
score
100.0
distance
58.851814
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
60.5058
seq distance
123
chain
A
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
60.5058
seq distance
123
chain
A
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
61.215977
seq distance
False
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
61.215977
seq distance
False
chain
B
In COACH1; dbSNP:rs863225231.
original residue
Q
variation residue
E
position
376
score
100.0
distance
61.215977
seq distance
False
chain
B
In MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; loss of interaction with WNT5A; dbSNP:rs137853106.
original residue
Q
variation residue
P
position
376
score
100.0
distance
61.215977
seq distance
False
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
61.85444
seq distance
407
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
61.85444
seq distance
407
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
62.092476
seq distance
514
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
62.092476
seq distance
514
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
65.47909
seq distance
531
chain
A
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
65.47909
seq distance
531
chain
A
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
65.8158
seq distance
False
chain
B
In COACH1; dbSNP:rs863225235.
original residue
T
variation residue
K
position
372
score
100.0
distance
65.8158
seq distance
False
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
66.01764
seq distance
False
chain
B
In dbSNP:rs35793208.
original residue
D
variation residue
N
position
261
score
100.0
distance
66.01764
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
66.18849
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225228.
original residue
P
variation residue
S
position
485
score
100.0
distance
66.18849
seq distance
False
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
66.46713
seq distance
False
chain
B
In dbSNP:rs202036490.
original residue
G
variation residue
A
position
218
score
100.0
distance
66.46713
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
66.95093
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs756906837.
original residue
D
variation residue
E
position
301
score
100.0
distance
66.95093
seq distance
False
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
67.29599
seq distance
False
chain
B
In dbSNP:rs35765535.
original residue
L
variation residue
V
position
437
score
100.0
distance
67.29599
seq distance
False
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
67.30187
seq distance
393
chain
A
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
67.30187
seq distance
393
chain
A
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
68.93287
seq distance
False
chain
B
In JBTS6; dbSNP:rs781383498.
original residue
D
variation residue
A
position
711
score
100.0
distance
68.93287
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
69.42391
seq distance
False
chain
B
Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene; dbSNP:rs111619594.
original residue
S
variation residue
C
position
320
score
100.0
distance
69.42391
seq distance
False
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
70.23125
seq distance
False
chain
B
In JBTS6, MKS3 and COACH1; dbSNP:rs137853107.
original residue
Y
variation residue
C
position
513
score
100.0
distance
70.23125
seq distance
False
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
74.2458
seq distance
False
chain
B
In RHYNS; may result in exon 13 skipping.
original residue
D
variation residue
G
position
430
score
100.0
distance
74.2458
seq distance
False
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
75.78554
seq distance
False
chain
B
In COACH1.
original residue
S
variation residue
G
position
728
score
100.0
distance
75.78554
seq distance
False
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
76.80425
seq distance
False
chain
B
In COACH1; dbSNP:rs267607115.
original residue
F
variation residue
S
position
590
score
100.0
distance
76.80425
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
79.099335
seq distance
418
chain
A
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
79.099335
seq distance
418
chain
A
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
80.0058
seq distance
False
chain
B
In dbSNP:rs3134031.
original residue
I
variation residue
V
position
604
score
100.0
distance
80.0058
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
81.18496
seq distance
419
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
81.18496
seq distance
419
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
81.76503
seq distance
542
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
81.76503
seq distance
542
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
85.716896
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder.
original residue
L
variation residue
R
position
739
score
100.0
distance
85.716896
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
86.93038
seq distance
745
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
86.93038
seq distance
745
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
87.39396
seq distance
769
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
87.39396
seq distance
769
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
90.243835
seq distance
372
chain
A
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
90.243835
seq distance
372
chain
A
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
92.25202
seq distance
False
chain
B
In MKS3; dbSNP:rs386834199.
original residue
L
variation residue
P
position
966
score
100.0
distance
92.25202
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
95.02405
seq distance
False
chain
B
In MKS3, COACH1 and NPHP11; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling; dbSNP:rs201893408.
original residue
C
variation residue
R
position
615
score
100.0
distance
95.02405
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
95.34293
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs757204749.
original residue
A
variation residue
V
position
616
score
100.0
distance
95.34293
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
96.2143
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225233.
original residue
F
variation residue
C
position
942
score
100.0
distance
96.2143
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
104.33494
seq distance
False
chain
B
Probable disease-associated variant found in Joubert syndrome-related disorder; dbSNP:rs1017800436.
original residue
G
variation residue
D
position
569
score
100.0
distance
104.33494
seq distance
False
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
104.4977
seq distance
348
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
104.4977
seq distance
348
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
104.65689
seq distance
782
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
104.65689
seq distance
782
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
107.859474
seq distance
585
chain
A
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
107.859474
seq distance
585
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
109.21298
seq distance
352
chain
A
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
109.21298
seq distance
352
chain
A
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
111.96081
seq distance
False
chain
B
Does not affect function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells it induces ROR2 phosphorylation upon stimulation by WNT5A.
original residue
G
variation residue
R
position
979
score
100.0
distance
111.96081
seq distance
False
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
112.803345
seq distance
589
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
112.803345
seq distance
589
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
112.803345
seq distance
589
chain
A
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
112.803345
seq distance
589
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
115.89842
seq distance
636
chain
A
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
115.89842
seq distance
636
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
117.33352
seq distance
440
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
117.33352
seq distance
440
chain
A
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
118.92419
seq distance
False
chain
B
In JBTS6; dbSNP:rs267607114.
original residue
G
variation residue
E
position
545
score
100.0
distance
118.92419
seq distance
False
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
120.15796
seq distance
False
chain
B
In COACH1; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs777137476.
original residue
H
variation residue
R
position
782
score
100.0
distance
120.15796
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
120.732376
seq distance
644
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
120.732376
seq distance
644
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
120.9318
seq distance
593
chain
A
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
120.9318
seq distance
593
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
121.06008
seq distance
646
chain
A
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
121.06008
seq distance
646
chain
A
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
122.49037
seq distance
False
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
122.49037
seq distance
False
chain
B
In MKS3.
original residue
G
variation residue
A
position
786
score
100.0
distance
122.49037
seq distance
False
chain
B
In MKS3; decreased function in non-canonical Wnt signaling activation; when expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A; dbSNP:rs386834193.
original residue
G
variation residue
E
position
786
score
100.0
distance
122.49037
seq distance
False
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
122.85741
seq distance
False
chain
B
In MKS3; affects Wnt signaling regulation; when expressed in TMEM67-null cells does not rescue increased canonical Wnt signaling.
original residue
R
variation residue
C
position
549
score
100.0
distance
122.85741
seq distance
False
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
124.26641
seq distance
471
chain
A
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
124.26641
seq distance
471
chain
A
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
124.5317
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225225.
original residue
F
variation residue
L
position
637
score
100.0
distance
124.5317
seq distance
False
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
125.23376
seq distance
False
chain
B
In MKS3; dbSNP:rs386834189.
original residue
W
variation residue
R
position
668
score
72.72727272727273
distance
125.23376
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
125.450584
seq distance
False
chain
B
In COACH1 and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7; dbSNP:rs267607119.
original residue
I
variation residue
T
position
833
score
100.0
distance
125.450584
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
125.64564
seq distance
False
chain
B
Decreased function in non-canonical Wnt signaling activation. When expressed in TMEM67-null cells does not induce ROR2 phosphorylation upon stimulation by WNT5A.
original residue
H
variation residue
R
position
790
score
72.72727272727273
distance
125.64564
seq distance
False
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
132.43857
seq distance
False
chain
B
In MKS3; dbSNP:rs386834194.
original residue
Y
variation residue
C
position
843
score
100.0
distance
132.43857
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
134.23662
seq distance
False
chain
B
In COACH1; unknown pathological significance; dbSNP:rs863225234.
original residue
Q
variation residue
P
position
841
score
100.0
distance
134.23662
seq distance
False
chain
B

Details

Redox score
63.09
PDB code
7fh1
Structure name
structure of the human meckelin
Structure deposition date
2021-07-29
Thiol separation (Å)
9.71
Half-sphere exposure sum
68
Minimum pKa
nan
% buried
nan
Peptide accession
Q5HYA8
Residue number A
184
Residue number B
197
Peptide name
Meckelin
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